Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
A characteristic symptom complex.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
The sexual attraction or relationship between members of the same SEX.
The vital life force in the body, supposedly able to be regulated by acupuncture. It corresponds roughly to the Greek pneuma, the Latin spiritus, and the ancient Indian prana. The concept of life-breath or vital energy was formulated as an indication of the awareness of man, originally directed externally toward nature or society but later turned inward to the self or life within. (From Comparison between Concepts of Life-Breath in East and West, 15th International Symposium on the Comparative History of Medicine - East and West, August 26-September 3, 1990, Shizuoka, Japan, pp. ix-x)
A genus in the family RETROVIRIDAE consisting of exogenous horizontally-transmitted viruses found in a few groups of mammals. Infections caused by these viruses include human B- or adult T-cell leukemia/lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED), and bovine leukemia (ENZOOTIC BOVINE LEUKOSIS). The type species is LEUKEMIA VIRUS, BOVINE.
In the YIN-YANG system of philosophy and medicine, an insufficiency of body fluid (called yinxu), manifesting often as irritability, thirst, constipation, etc. (The Pinyin Chinese-English Dictionary, 1979).
A multicentric, malignant neoplastic vascular proliferation characterized by the development of bluish-red cutaneous nodules, usually on the lower extremities, most often on the toes or feet, and slowly increasing in size and number and spreading to more proximal areas. The tumors have endothelium-lined channels and vascular spaces admixed with variably sized aggregates of spindle-shaped cells, and often remain confined to the skin and subcutaneous tissue, but widespread visceral involvement may occur. Kaposi's sarcoma occurs spontaneously in Jewish and Italian males in Europe and the United States. An aggressive variant in young children is endemic in some areas of Africa. A third form occurs in about 0.04% of kidney transplant patients. There is also a high incidence in AIDS patients. (From Dorland, 27th ed & Holland et al., Cancer Medicine, 3d ed, pp2105-7) HHV-8 is the suspected cause.
Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection.
A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating AIDS-related complex (ARC) from AIDS include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in AIDS; follicular or mixed hyperplasia in ARC lymph nodes, leading to lymphocyte degeneration and depletion more typical of AIDS; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown AIDS.
A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)
Diseases of LYMPH; LYMPH NODES; or LYMPHATIC VESSELS.
In the YIN-YANG system of philosophy and medicine, a lack of vital energy (called yangxu in Chinese). It manifests itself in various systemic and organic diseases. (The Pinyin Chinese-English Dictionary, 1979)
This enzyme catalyzes the last step of CREATINE biosynthesis by catalyzing the METHYLATION of guanidinoacetate to CREATINE.
Enzymes of a subclass of TRANSFERASES that catalyze the transfer of an amidino group from donor to acceptor. EC 2.1.4.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A pulmonary disease in humans occurring in immunodeficient or malnourished patients or infants, characterized by DYSPNEA, tachypnea, and HYPOXEMIA. Pneumocystis pneumonia is a frequently seen opportunistic infection in AIDS. It is caused by the fungus PNEUMOCYSTIS JIROVECII. The disease is also found in other MAMMALS where it is caused by related species of Pneumocystis.
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
A system of traditional medicine which is based on the beliefs and practices of the Chinese culture.
Human immunodeficiency virus. A non-taxonomic and historical term referring to any of two species, specifically HIV-1 and/or HIV-2. Prior to 1986, this was called human T-lymphotropic virus type III/lymphadenopathy-associated virus (HTLV-III/LAV). From 1986-1990, it was an official species called HIV. Since 1991, HIV was no longer considered an official species name; the two species were designated HIV-1 and HIV-2.
Opportunistic infections found in patients who test positive for human immunodeficiency virus (HIV). The most common include PNEUMOCYSTIS PNEUMONIA, Kaposi's sarcoma, cryptosporidiosis, herpes simplex, toxoplasmosis, cryptococcosis, and infections with Mycobacterium avium complex, Microsporidium, and Cytomegalovirus.
Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (MuLV). The syndrome shows striking similarities with human AIDS and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas.
In Chinese philosophy and religion, two principles, one negative, dark, and feminine (yin) and one positive, bright, and masculine (yang), from whose interaction all things are produced and all things are dissolved. As a concept the two polar elements referred originally to the shady and sunny sides of a valley or a hill but it developed into the relationship of any contrasting pair: those specified above (female-male, etc.) as well as cold-hot, wet-dry, weak-strong, etc. It is not a distinct system of thought by itself but permeates Chinese life and thought. A balance of yin and yang is essential to health. A deficiency of either principle can manifest as disease. (Encyclopedia Americana)
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
An autosomal recessively inherited disorder caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE that facilitates the esterification of lipoprotein cholesterol and subsequent removal from peripheral tissues to the liver. This defect results in low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of CORNEAL OPACITY, hemolytic anemia (ANEMIA, HEMOLYTIC), and PROTEINURIA.
An infection caused by an organism which becomes pathogenic under certain conditions, e.g., during immunosuppression.
A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)
Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).
Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS).
Virus diseases caused by the RETROVIRIDAE.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.
A class of lymphocytes characterized by the lack of surface markers specific for either T or B lymphocytes.
Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness.
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.
A course of food intake that is high in FATS and low in CARBOHYDRATES. This diet provides sufficient PROTEINS for growth but insufficient amount of carbohydrates for the energy needs of the body. A ketogenic diet generates 80-90% of caloric requirements from fats and the remainder from proteins.
A bacterium causing tuberculosis in domestic fowl and other birds. In pigs, it may cause localized and sometimes disseminated disease. The organism occurs occasionally in sheep and cattle. It should be distinguished from the M. avium complex, which infects primarily humans.
Antigens associated with specific proteins of the human adult T-cell immunodeficiency virus (HIV); also called HTLV-III-associated and lymphadenopathy-associated virus (LAV) antigens.
Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= APE DISEASES).
A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)
A cytosolic carbonic anhydrase isoenzyme found widely distributed in cells of almost all tissues. Deficiencies of carbonic anhydrase II produce a syndrome characterized by OSTEOPETROSIS, renal tubular acidosis (ACIDOSIS, RENAL TUBULAR) and cerebral calcification. EC 4.2.1.-
A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.
Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES.
The type species of LENTIVIRUS and the etiologic agent of AIDS. It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.
A ubiquitously expressed glucose transporter that is important for constitutive, basal GLUCOSE transport. It is predominately expressed in ENDOTHELIAL CELLS and ERYTHROCYTES at the BLOOD-BRAIN BARRIER and is responsible for GLUCOSE entry into the BRAIN.
Lymphocytes responsible for cell-mediated immunity. Two types have been identified - cytotoxic (T-LYMPHOCYTES, CYTOTOXIC) and helper T-lymphocytes (T-LYMPHOCYTES, HELPER-INDUCER). They are formed when lymphocytes circulate through the THYMUS GLAND and differentiate to thymocytes. When exposed to an antigen, they divide rapidly and produce large numbers of new T cells sensitized to that antigen.
Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.
The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)
A complex that includes several strains of M. avium. M. intracellulare is not easily distinguished from M. avium and therefore is included in the complex. These organisms are most frequently found in pulmonary secretions from persons with a tuberculous-like mycobacteriosis. Strains of this complex have also been associated with childhood lymphadenitis and AIDS; M. avium alone causes tuberculosis in a variety of birds and other animals, including pigs.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Immunoglobulins produced in response to VIRAL ANTIGENS.
Antibodies reactive with HIV ANTIGENS.
A nontuberculous infection when occurring in humans. It is characterized by pulmonary disease, lymphadenitis in children, and systemic disease in AIDS patients. Mycobacterium avium-intracellulare infection of birds and swine results in tuberculosis.
A nutritional condition produced by a deficiency of THIAMINE in the diet, characterized by anorexia, irritability, and weight loss. Later, patients experience weakness, peripheral neuropathy, headache, and tachycardia. In addition to being caused by a poor diet, thiamine deficiency in the United States most commonly occurs as a result of alcoholism, since ethanol interferes with thiamine absorption. In countries relying on polished rice as a dietary staple, BERIBERI prevalence is very high. (From Cecil Textbook of Medicine, 19th ed, p1171)
A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)
A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A.
An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.
A species of the genus MACACA which inhabits Malaya, Sumatra, and Borneo. It is one of the most arboreal species of Macaca. The tail is short and untwisted.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Development of neutralizing antibodies in individuals who have been exposed to the human immunodeficiency virus (HIV/HTLV-III/LAV).
The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells.
Biochemical identification of mutational changes in a nucleotide sequence.
Therapeutic use of hormones to alleviate the effects of hormone deficiency.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Infections with bacteria of the genus MYCOBACTERIUM.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
Acquired defect of cellular immunity that occurs naturally in macaques infected with SRV serotypes, experimentally in monkeys inoculated with SRV or MASON-PFIZER MONKEY VIRUS; (MPMV), or in monkeys infected with SIMIAN IMMUNODEFICIENCY VIRUS.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis).
B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation.
Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults.
A genus of the subfamily CERCOPITHECINAE, family CERCOPITHECIDAE, consisting of 16 species inhabiting forests of Africa, Asia, and the islands of Borneo, Philippines, and Celebes.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Elements of limited time intervals, contributing to particular results or situations.
A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
Proteins from the family Retroviridae. The most frequently encountered member of this family is the Rous sarcoma virus protein.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A species of the genus MACACA inhabiting India, China, and other parts of Asia. The species is used extensively in biomedical research and adapts very well to living with humans.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Chinese herbal or plant extracts which are used as drugs to treat diseases or promote general well-being. The concept does not include synthesized compounds manufactured in China.
Species of the genus LENTIVIRUS, subgenus primate immunodeficiency viruses (IMMUNODEFICIENCY VIRUSES, PRIMATE), that induces acquired immunodeficiency syndrome in monkeys and apes (SAIDS). The genetic organization of SIV is virtually identical to HIV.
Drug regimens, for patients with HIV INFECTIONS, that aggressively suppress HIV replication. The regimens usually involve administration of three or more different drugs including a protease inhibitor.
Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased.
The number of CD4-POSITIVE T-LYMPHOCYTES per unit volume of BLOOD. Determination requires the use of a fluorescence-activated flow cytometer.
A nutritional condition produced by a deficiency of VITAMIN E in the diet, characterized by posterior column and spinocerebellar tract abnormalities, areflexia, ophthalmoplegia, and disturbances of gait, proprioception, and vibration. In premature infants vitamin E deficiency is associated with hemolytic anemia, thrombocytosis, edema, intraventricular hemorrhage, and increasing risk of retrolental fibroplasia and bronchopulmonary dysplasia. An apparent inborn error of vitamin E metabolism, named familial isolated vitamin E deficiency, has recently been identified. (Cecil Textbook of Medicine, 19th ed, p1181)
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
Blood-coagulation factor VIII. Antihemophilic factor that is part of the factor VIII/von Willebrand factor complex. Factor VIII is produced in the liver and acts in the intrinsic pathway of blood coagulation. It serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
Morphologic alteration of small B LYMPHOCYTES or T LYMPHOCYTES in culture into large blast-like cells able to synthesize DNA and RNA and to divide mitotically. It is induced by INTERLEUKINS; MITOGENS such as PHYTOHEMAGGLUTININS, and by specific ANTIGENS. It may also occur in vivo as in GRAFT REJECTION.
A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)
Mucoproteins isolated from the kidney bean (Phaseolus vulgaris); some of them are mitogenic to lymphocytes, others agglutinate all or certain types of erythrocytes or lymphocytes. They are used mainly in the study of immune mechanisms and in cell culture.
A soluble substance elaborated by antigen- or mitogen-stimulated T-LYMPHOCYTES which induces DNA synthesis in naive lymphocytes.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
Endoscopic examination, therapy or surgery of the bronchi.
Family of RNA viruses that infects birds and mammals and encodes the enzyme reverse transcriptase. The family contains seven genera: DELTARETROVIRUS; LENTIVIRUS; RETROVIRUSES TYPE B, MAMMALIAN; ALPHARETROVIRUS; GAMMARETROVIRUS; RETROVIRUSES TYPE D; and SPUMAVIRUS. A key feature of retrovirus biology is the synthesis of a DNA copy of the genome which is integrated into cellular DNA. After integration it is sometimes not expressed but maintained in a latent state (PROVIRUSES).
White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.
An immunoassay utilizing an antibody labeled with an enzyme marker such as horseradish peroxidase. While either the enzyme or the antibody is bound to an immunosorbent substrate, they both retain their biologic activity; the change in enzyme activity as a result of the enzyme-antibody-antigen reaction is proportional to the concentration of the antigen and can be measured spectrophotometrically or with the naked eye. Many variations of the method have been developed.
Invasion of the host organism by microorganisms that can cause pathological conditions or diseases.
Established cell cultures that have the potential to propagate indefinitely.
An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.)
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G.
Substances elaborated by viruses that have antigenic activity.
Agents used to treat RETROVIRIDAE INFECTIONS.
Inflammation of the BRAIN due to infection, autoimmune processes, toxins, and other conditions. Viral infections (see ENCEPHALITIS, VIRAL) are a relatively frequent cause of this condition.
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
A nutritional condition produced by a deficiency of VITAMIN B 6 in the diet, characterized by dermatitis, glossitis, cheilosis, and stomatitis. Marked deficiency causes irritability, weakness, depression, dizziness, peripheral neuropathy, and seizures. In infants and children typical manifestations are diarrhea, anemia, and seizures. Deficiency can be caused by certain medications, such as isoniazid.
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
Sodium chloride-dependent neurotransmitter symporters located primarily on the PLASMA MEMBRANE of dopaminergic neurons. They remove DOPAMINE from the EXTRACELLULAR SPACE by high affinity reuptake into PRESYNAPTIC TERMINALS and are the target of DOPAMINE UPTAKE INHIBITORS.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)
A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
Agents used to treat AIDS and/or stop the spread of the HIV infection. These do not include drugs used to treat symptoms or opportunistic infections associated with AIDS.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Antibodies produced by a single clone of cells.
An infant during the first month after birth.

Immune surveillance against a solid tumor fails because of immunological ignorance. (1/1529)

Many peripheral solid tumors such as sarcomas and carcinomas express tumor-specific antigens that can serve as targets for immune effector T cells. Nevertheless, overall immune surveillance against such tumors seems relatively inefficient. We studied immune surveillance against a s.c. sarcoma expressing a characterized viral tumor antigen. Surprisingly, the tumor cells were capable of inducing a protective cytotoxic T cell response if transferred as a single-cell suspension. However, if they were transplanted as small tumor pieces, tumors readily grew. Tumor growth correlated strictly with (i) failure of tumor cells to reach the draining lymph nodes and (ii) absence of primed cytotoxic T cells. Cytotoxic T cells were not tolerant or deleted because a tumor antigen-specific cytotoxic T cell response was readily induced in lymphoid tissue by immunization with virus or with tumor cells even in the presence of large tumors. Established tumors were rejected by vaccine-induced effector T cells if effector T cells were maintained by prolonged or repetitive vaccination, but not by single-dose vaccination. Thus, in addition to several other tumor-promoting parameters, some antigenic peripheral sarcomas-and probably carcinomas-may grow not because they anergize or tolerize tumor-specific T cells, but because such tumors are immunologically dealt with as if they were in a so-called immunologically privileged site and are ignored for too long.  (+info)

Availability of immune globulin intravenous for treatment of immune deficient patients--United States, 1997-1998. (2/1529)

Immune globulin intravenous (IGIV) is a lifesaving treatment for patients with primary immunodeficiency. Since November 1997, a shortage of IGIV has existed in the United States. In 1998, the Food and Drug Administration (FDA) required pharmaceutical companies to increase the frequency of reporting on IGIV distribution from biannually to monthly; in addition, FDA facilitated IGIV distribution and informed clinicians about the ongoing shortage. To assess the impact of the IGIV shortage on patient care, in 1998 the Immune Deficiency Foundation (IDF) surveyed physicians caring for immunodeficient patients about whether they have had difficulty obtaining IGIV, measures they have taken because of the shortage, and the effect of the shortage on their patients. This report summarizes data reported to FDA and data obtained from the IDF survey and provides recommendations for IGIV use during the shortage.  (+info)

Management of primary antibody deficiency by consultant immunologists in the United Kingdom: a paradigm for other rare diseases. (3/1529)

Variation in clinical practice and its effect on outcome is little known for rare diseases such as primary antibody deficiency. As part of a national audit a survey of all 30 consultant immunologists in the United Kingdom dealing with primary antibody deficiency syndromes in adults and children was carried out in 1993 to ascertain their practices in diagnosis and management. Consensus guidelines were published after the survey was completed. Comparison of the survey results of clinical practice at the time the guidelines were published with the standards identified highlighted that the practice of a minority of specialists was at variance with their peers and with the consensus document, particularly in the use of intramuscular immunoglobulin, the dose and frequency of intravenous immunoglobulin, and target trough immunoglobulin G concentration, which has implications for the quality of patient care. However, much closer agreement existed in the key areas of management, such as diagnosis and selection of intravenous immunoglobulin. The approach and the problems identified are relevant to the management of other rare diseases, in which diagnosis and management is complex and there are few specialists with the necessary knowledge to undertake such care. This survey, the first attempted audit of practice, shows that within a motivated group of specialists highly significant differences in practice may exist and the authors emphasise the importance of setting clear guidelines against which care can be assessed.  (+info)

Pesticides and immunosuppression: the risks to public health. (4/1529)

There is substantial experimental, epidemiological and other evidence that many pesticides in widespread use around the world are immunosuppressive. This poses a potentially serious health risk in populations highly exposed to infectious and parasitic diseases, subject to malnutrition, and inadequately serve by curative health programmes. An expanded programme of research is needed to investigate this potential risk and to design precautionary measures.  (+info)

Immunodeficiency syndrome in a 3-year-old llama. (5/1529)

An adult, castrated male llama was presented for evaluation of a chronic respiratory problem. Complete blood analyses indicated a leukopenia and hypoproteinemia. Radial immunodiffusion, bone marrow core, and lymph node biopsies supported a tentative diagnosis of juvenile llama immunodeficiency syndrome. This diagnosis was confirmed by postmortem findings.  (+info)

Accelerated emigration of B lymphocytes in the Xid mouse. (6/1529)

The B cell receptor is required for the emigration of newly generated B lymphocytes and for their maintenance in the periphery. A specific maintenance defect was noted in fraction I (IgDhighIgMlow) B cells in Xid mice (which harbor a mutation in Btk). Although Bcl-2 levels in fractions I and II (IgDhighIgMhigh) are equivalent in normal and Xid B cells, a novel peak of Bcl-2low fraction III (IgDlowIgMhigh) B cells was noted in the Xid mouse. Since this B cell population resembled bone marrow immature B cells, we examined the emigration of newly formed B cells in normal and Xid mice. These studies revealed the accelerated emigration of newly formed Xid B cells. We conclude that distinct Btk-independent and Btk-dependent signals mediate emigration and maintenance events during peripheral B cell maturation.  (+info)

Phosphorylation of CD19 Y484 and Y515, and linked activation of phosphatidylinositol 3-kinase, are required for B cell antigen receptor-mediated activation of Bruton's tyrosine kinase. (7/1529)

Bruton's tyrosine kinase (Btk) plays a critical role in B cell Ag receptor (BCR) signaling, as indicated by the X-linked immunodeficiency and X-linked agammaglobulinemia phenotypes of mice and men that express mutant forms of the kinase. Although Btk activity can be regulated by Src-family and Syk tyrosine kinases, and perhaps by phosphatidylinositol 3,4,5-trisphosphate, BCR-coupled signaling pathways leading to Btk activation are poorly understood. In view of previous findings that CD19 is involved in BCR-mediated phosphatidylinositol 3-kinase (PI3-K) activation, we assessed its role in Btk activation. Using a CD19 reconstituted myeloma model and CD19 gene-ablated animals we found that BCR-mediated Btk activation and phosphorylation are dependent on the expression of CD19, while BCR-mediated activation of Lyn and Syk is not. Wortmannin preincubation inhibited the BCR-mediated activation and phosphorylation of Btk. Btk activation was not rescued in the myeloma by expression of a CD19 mutant in which tyrosine residues previously shown to mediate CD19 interaction with PI3-K, Y484 and Y515, were changed to phenylalanine. Taken together, the data presented indicate that BCR aggregation-driven CD19 phosphorylation functions to promote Btk activation via recruitment and activation of PI3-K. Resultant phosphatidylinositol 3,4,5-trisphosphate probably functions to localize Btk for subsequent phosphorylation and activation by Src and Syk family kinases.  (+info)

Glutamate augments retrovirus-induced immunodeficiency through chronic stimulation of the hypothalamic-pituitary- adrenal axis. (8/1529)

The mechanisms for activating the hypothalamic-pituitary-adrenal (HPA) axis and the roles glucocorticoids play in the pathogenesis of chronic infectious disease are largely undefined. Using the LP-BM5 model of retrovirus-induced immunodeficiency, we found alterations in HPA axis function, manifested as an increase in circulating levels of adrenocorticotropic hormone and corticosterone, beginning after only 3 mo of infection. These changes occurred contemporaneously with a shift in the profile of circulating cytokines from a Th1-dominant (IFN-gamma) to Th2-dominant (IL-4, IL-10) phenotype. No significant changes in either circulating IL-1beta, IL-6, or TNF-alpha levels were observed in infected mice. Administering the N-methyl-D-aspartate receptor antagonist MK-801 to infected mice normalized plasma adrenocorticotropic hormone and corticosterone levels, indicating that glutamate was a major activator of the HPA axis. Moreover, MK-801 treatment of late-stage mice also reversed the type 1 to type 2 cytokine shift to a degree comparable or superior to treatment with the glucocorticoid receptor antagonist RU-486. These findings indicate that HPA axis activation during LP-BM5 retrovirus infection is mediated by the chronic hyperactivation of glutamatergic pathways in the hypothalamus. Through this mechanism, the degree of peripheral immunodeficiency observed in the late-stage disease is profoundly augmented.  (+info)

NIH clinicians have cared for people with unusual and difficult-to-treat immune disorders for decades, says NIAID Director Anthony S. Fauci, M.D. This study exemplifies their commitment to improving the lives of people with these diseases by trying to uncover the causes of these disorders and thereby better understanding how to treat them.. Combined immunodeficiency is a type of primary immune deficiency disease (PIDD) in which several parts of the immune system are affected. This inherited disorder is characterized by increased susceptibility to bacterial, viral and fungal infections of various organs of the body. In some cases, susceptibility to cancers also may be seen.. There are 150 known PIDDs. Approximately 500,000 people in the United States have been diagnosed with a PIDD, while many more remain undiagnosed.. The NIAID and NCI investigators recognized that certain patients with an undefined form of combined immunodeficiency shared enough clinical features to make it likely that the ...
This new market research report forecasts on Subcutaneous Immunoglobulins Market providing complete market figures, consisting market size and estimation by Subcutaneous Immunoglobulins Market application and products depending upon geographical location for the forecasting period 2017 to 2025. Further, the Subcutaneous Immunoglobulins Market research report study also encompasses complete industry background, with Subcutaneous Immunoglobulins Market drivers, competitive market dynamics, market restraints, market growth opportunities, industry challenges and critical success factors (CSFs). The Subcutaneous Immunoglobulins Market research report examines top industry competitors, offering organization market share analysis and detailed outlines of these firms, with product benchmarking.. Browse Full Report Visit - http://bit.ly/2eEmGnr. Reasons to Buy This Report :. ...
There are two types of immunodeficiency diseases; primary and secondary.. Primary immune deficiency, caused by a genetic problem in the bodys defense system, is when the bodys immune defense system is missing a part or does not work correctly. Over 150 different primary immune deficiency diseases are known today with some occurring with greater frequency (selective IgA deficiency) while others are extremely rare (ADA deficiency). If a primary immune deficiency is not treated, it can cause serious illness and life-threatening infections. Present day, thanks to enhanced technology, doctors can recognize primary immune deficiency signs even earlier in order people can live close to normal lives with treatment. Previously, treatment options were limited and life expectancy was shorter for some of these individuals.. Secondary immune deficiency disease is when the bodys defense system is changed due to an external factor outside the body. Some examples include dialysis, burns, chemotherapy, ...
Primary immunodeficiencies include a variety of disorders that render patients more susceptible to infections. If left untreated, these infections may be fatal. The disorders constitute a spectrum of more than 80 innate defects in the bodys immune system. Primary immunodeficiencies generally are considered to be relatively uncommon. There may be as many as 500,000 cases in the United States, of which about 50,000 cases are diagnosed each year. Common primary immunodeficiencies include disorders of humoral immunity (affecting B-cell differentiation or antibody production), T-cell defects and combined B- and T-cell defects, phagocytic disorders, and complement deficiencies. Major indications of these disorders include multiple infections despite aggressive treatment, infections with unusual or opportunistic organisms, failure to thrive or poor growth, and a positive family history. Early recognition and diagnosis can alter the course of primary immunodeficiencies significantly and have a positive effect
When part of the immune system malfunctions or is absent, an immune deficiency disease can develop. Immune deficiency diseases are bred either from an inborn immune system cell defect (primary immune deficiency disease) or from an extrinsic environmental agent (secondary immune deficiency disease). Example: AIDS is caused by an extrinsic force (HIV) and is therefore a secondary immune deficiency disease. Autoimmune diseases such as multiple sclerosis and lupus affect the tissue that connects the body tissue and organs, triggering a breakdown in the immune system ...
CIS recognizes the importance of ongoing education in the field of clinical immunology. Annual Meetings are held at varying locations around the United States, and include invited speakers and both oral and poster abstract presentations, as well as opportunities to speak with representatives from leading companies in the field of immunology.. CIS is also proud to host the only meeting in North America that focuses on Primary Immunodeficiency. The primary goal of this biannual national conference is to provide an exciting venue for the presentation of the newest primary immune deficiency diseases and the pathogenesis of these defects in molecular terms. Another goal is to grow the community of physicians who feel competent to see patients with primary immune deficiency diseases.. Registration fees for the Annual Meeting and Primary Immunodeficiency Conference are reduced for members of CIS. Members also receive access to virtual meeting presentations from past Annual Meetings.. ...
Primary humoral immunodeficiency or primary immune deficiency diseases (PIDD) is a group of disorders in which the immune system of an individual does not function properly. In PIDD patients, the number of antibodies produced in the body is not sufficient, or the ones produced are defective. PIDDs are thus often characterized by increased vulnerability to infections. According to the International Union of Immunological Societies (IUIS), PIDD is a compilation of more than 150 different diseases.. Request for Sample Report: http://www.mrrse.com/sample/3381. This report on the Subcutaneous Immunoglobulin Market analyzes the current and future prospects of the market. The report comprises an elaborate executive summary, including a market snapshot that provides overall information of various segments and sub-segments. The research is a combination of primary and secondary research. Detailed qualitative analysis of factors responsible for driving and restraining market growth and opportunities has ...
Primary Immunodeficiency Disorders - free book at E-Books Directory. You can download the book or read it online. It is made freely available by its author and publisher.
How is Subcutaneous Immunoglobulin (medical treatment) abbreviated? SCIg stands for Subcutaneous Immunoglobulin (medical treatment). SCIg is defined as Subcutaneous Immunoglobulin (medical treatment) very frequently.
Allergic, especially anaphylactic, reactions during immunoglobulin replacement therapy are rare, but their pathophysiology and classification remain ambiguous. Recent findings show positive results of skin tests with commercially available immunoglobulins, but target antigens and responsible compounds of the tested immunoglobulins have not been strictly identified. Four adult patients with recently diagnosed common variable immunodeficiency qualified for standard subcutaneous immunoglobulin replacement therapy regimen. They had no history of receiving immunoglobulins, blood or blood product transfusions. Edema, confluent wheals and erythema were observed at the site of subcutaneous immunoglobulin infusion: typical early and late phase reaction. A transient increase in various passively transferred IgG and IgE antibodies was responsible for misleading positive outcome of the serological testing for active humoral response such as type I allergy, anti-Rh, isohemagglutinins and rheumatoid factor (RF).
Global Primary Immunodeficiency Diseases Market was recorded at US$4.4 bn in 2014, it is expected to exhibit a CAGR of 6.10% within a forecast period from 2015 to 2023.
Care guide for Primary Immune Deficiency Disorder. Includes: possible causes, signs and symptoms, standard treatment options and means of care and support.
Dennis D. Hickstein, M.D., Senior Investigator in the Immune Deficiency Cellular Therapy Program is leading a study that uses new DNA technology that speeds up the process of screening for primary immunodeficiency diseases (PIDs) and finding an acceptable donor match for hematopoietic stem cell transplant (HSCT).
This study is part of the BIVIGAM® post marketing requirement (PMR). It is being conducted in subjects aged 2-16 with primary immune deficiency disorders
Global Markets Directs latest Pharmaceutical and Healthcare disease pipeline guide Primary Immune Deficiency (PID) (Genitourinary Disorders) -
Primary immunodeficiency diseases (PIDDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. As most subjects with PIDDs present with infections, the differential diagnosis and initial investigations for an underlying immune defect are typically guided by the clinical presentation. In subjects with PIDDs, individual infections are not necessarily more severe than those that occur in a normal host. Rather, the clinical features suggestive of an immune defect may be the recurring and/or chronic nature of infections with common pathogens that may result in end organ damage, such as bronchiectasis. Several immune globulin products have already been approved by the FDA ...
The second edition of Primary Immunodeficiency Diseases presents discussions of gene identification, mutation detection, and clinical and research applications for over 100 genetic immune disorders--disorders featuring an increased susceptibility to infections and, in certain conditions, an icreased rate of malignancies and autoimmune disorders.
NIH Funding Opportunities and Notices in the NIH Guide for Grants and Contracts: Small Grants on Primary Immunodeficiency Diseases (R03) PA-10-147. NIAID
This is an original IND for an investigator initiated phase I/II study. The primary purpose of the study is to evaluate the safety and efficacy of performing bilateral orthotopic lung transplantation (BOLT) followed by cadaveric, partially HLA-matched CD3+/CD19+-depleted hematopoietic stem cell transplantation (HSCT) from the same donor for patients with primary immunodeficiency diseases (PID) and end-stage lung disease. For many patients with primary immunodeficiencies, HSCT is a curative, life-saving therapy, resulting in restoration of function in the immune system. Patients with primary immunodeficiencies often develop pulmonary complications as a result of chronic or recurrent infections, making them ineligible for HSCT due to the high risk of mortality and pulmonary complications. Lung transplant prior to HSCT would allow for restoration of pulmonary function prior to HSCT, allowing PID patients to proceed to HSCT, which would be curative for the patients underlying immunodeficiency. As a ...
To increase early diagnosis and proper treatment of patients with primary immunodeficiency diseases as physicians need to be educated about the recognition and disease management of primary immunodeficiencies. Since individuals are most likely to first contact their primary care providers with symptoms, these physicians especially need information about how to meet their patients needs with proper diagnosis, treatments and referrals. In addition, immunologists, allergists and others who treat primary immunodeficiency diseases need to be updated on matters that will lead to earlier diagnosis and appropriate treatment modalities. Nurses who care for patients with primary immunodeficiency diseases or administer immune globulin replacement treatment need continuing education in order to improve the quality of care they provide.. ...
Primary immunodeficiencies are disorders in which part of the bodys immune system is missing or does not function normally. To be considered a primary immunodeficiency, the cause of the immune deficiency must not be secondary in nature (i.e., caused by other disease, drug treatment, or environmental exposure to toxins). Most primary immunodeficiencies are genetic disorders; the majority are diagnosed in children under the age of one, although milder forms may not be recognized until adulthood. While there are over 100 recognized PIDs, most are very rare. About 1 in 500 people in the United States are born with a primary immunodeficiency. Immune deficiencies can result in persistent or recurring infections, autoinflammatory disorders, tumors, and disorders of various organs. There are currently no cures for these conditions; treatment is palliative and consists of managing infections and boosting the immune system. The precise symptoms of a primary immunodeficiency depend on the type of defect. ...
Primary immune deficiency diseases are those caused by inherited genetic mutations. Secondary or acquired immune deficiencies are caused by something outside the body such as a virus or immune suppressing drugs.[5]. Primary immune diseases are at risk to an increased susceptibility to, and often recurrent ear infections, pneumonia, bronchitis, sinusitis or skin infections. Immunodeficient patients may less frequently develop abscesses of their internal organs, autoimmune or rheumatologic and gastrointestinal problems.[6]. ...
Human normal immunoglobulin in the treatment of primary immunodeficiency diseases Philip WoodSt James University Hospital, Leeds, United KingdomAbstract: The primary antibody deficiency syndromes are a rare group of disorders that can present at any age, and for which delay in diagnosis remains common. Replacement therapy with immunoglobulin in primary antibody deficiencies increases life expectancy and reduces the frequency and severity of infection. Higher doses of immunoglobulin are associated with reduced frequency of infection. Late diagnosis and delayed institution of immunoglobulin replacement therapy results in increased morbidity with a wide variety of organ-specific complications and increased mortality. Risks of immunoglobulin therapy are minimized by modern manufacturing processes, although patients can experience both immediate and delayed adverse reactions, and concerns remain over the transmission of prions in plasma. Immunoglobulin therapy leads to improvements in overall quality of life
J Clin Immunol. 2011 Jun;31(3):315-22. doi: 10.1007/s10875-011-9511-0. Epub 2011 Mar 2. Clinical Trial; Multicenter Study; Research Support, Non-U.S. Govt
The immunoglobulin literature database includes abstracts and references from medical journals indexed in PubMed. The scope of the database covers the clinical use of immunoglobulin in various clinical specialties.. A side bar navigation allows you to select specific clinical areas or indications. The search functionality supports full Boolean logic. Initial search retrieval yields citations which may be sorted by author, title or publication date. Each citation provides a full abstract to the published article.. IVIG is the only effective treatment for primary immunodeficiency disease and also has been proven clinically beneficial in the treatment of secondary immune deficiency diseases and other neurological disorders. In addition to primary immunodeficiency disease, individual United States licensed IVIG products are labeled for the treatment of:. ...
Primary immunodeficiency diseases (PID) are a group of potentially serious disorders in which inherited defects in the immune system lead to increased infections. There are more than 100 separate primary immunodeficiency diseases, with new disorders being described regularly.
Our multidisciplinary Primary Immunodeficiency Program takes an integrated approach to the evaluation and treatment of this complex group of diseases.
On September 14, 1990, a four-year-old girl from Ohio sat playing quietly in her hospital bed while a solution containing white blood cells equipped with new genes dripped slowly through a needle into her vein. The girl, Ashanthi DeSilva, had been born with a serious immunodeficiency disease known as adenosine deaminase deficiency (or ADA deficiency). Because of a defective gene, she lacked an enzyme her immune system needed to work. Her treatment at the U.S. National Institutes of Health marked the first authorized test of gene therapy on a person in the United States. In the nine years that followed, some 3,000 people received experimental gene therapy for various diseases, including several more children with ADA deficiency. As a result of this therapy, Ashanthi, who also received an enzyme treatment called PEG-ADA, was able to go to school like other children instead of staying isolated from others to prevent infection. She was reported to have grown into a thriving preteen. Doctors credited ...
TY - JOUR. T1 - Incidence and temporal trends of primary immunodeficiency. T2 - A population-based cohort study. AU - Joshi, Avni Y.. AU - Iyer, Vivek N.. AU - Hagan, John B.. AU - St. Sauver, Jennifer. AU - Boyce, Thomas G.. PY - 2009. Y1 - 2009. N2 - OBJECTIVE: To determine the incidence and temporal trends of primary immunodeficiency diseases (PIDs) and examine whether an association exists between delayed diagnosis and increased morbidity. PATIENTS AND METHODS: We performed a historical cohort study to describe the epidemiology of PIDs in Olmsted County, Minnesota, during a 31-year period from January 1, 1976, through December 31, 2006, using the Rochester Epidemiology Project. Incidence and trends over time, presence of comorbid conditions, and trends in management were determined. RESULTS: During the 31-year study period, 158 new cases of PIDs were diagnosed, with an overall incidence rate of 4.6 per 100,000 person-years. The rate of PIDs from 2001 through 2006 (10.3 per 100,000 ...
Immune deficiencies are treated with immunoglobulin therapy or gamma interferon therapy, according to Mayo Clinic. Immunoglobulin therapy involves introducing antibody proteins the immune system...
In the current issue of Nature Immunology, Casanova and colleagues demonstrate that humans (and mouse models) with autosomal-recessive SPPL2a deficiency have a severe defect in conventional dendritic cell 2 survival and production of IL-12 and IL-23, and diminished IFN-γ secretion by mycobacterium-specific memory T cells, thus resulting in increased susceptibility to mycobacterial diseases.. ...
IPIC is an international scientific meeting focusing on the clinical management of Primary Immunodeficiencies (PIDs). The uniqueness of IPIC comes from the fact…
Varicella zoster virus can remain dormant for decades and reactivate to cause shingles. Shingles occurs at a higher rate in immunocompromised individuals. A study published this week in the JCI provides insights into a metabolic mechanism for immune deficiencies that permit reactivation of long-latent viruses. These findings are a step toward new strategies to improve preventative treatments for shingles and other infections in high-risk populations.
Primary immunodeficiencies are inherited disorders of the immune system, often caused by the mutation of genes required for lymphocyte development and activation. Recently, several studies have identified gain-of-function mutations in the phosphoinositide 3-kinase (PI3K) genes PIK3CD (which encodes p110δ) and PIK3R1 (which encodes p85α) that cause a combined immunodeficiency syndrome, referred to as activated PI3Kδ syndrome (APDS; also known as p110δ-activating mutation causing senescent T cells, lymphadenopathy and immunodeficiency (PASLI)). Paradoxically, both loss-of-function and gain-of-function mutations that affect these genes lead to immunosuppression, albeit via different mechanisms. Here, we review the roles of PI3Kδ in adaptive immunity, describe the clinical manifestations and mechanisms of disease in APDS and highlight new insights into PI3Kδ gleaned from these patients, as well as implications of these findings for clinical therapy.. ...
Immunoglobulin replacement therapy (IRT) is the standard treatment for most children and adults with primary immune deficiencies and some other medical conditions. The aim is to replace immunoglobulin to maintain normal IgG levels. The dose used is individualised for each patient.
Global Subcutaneous Immunoglobulins Market - This market research report segment the market based on keyPlayers, regions, type & application. Pages: 116 at $3,480
The genomic approach to diagnose PIDDs started about 5 years ago when Dr. Stray-Pedersen came from Oslo to work with Dr. Lupski and me on the genetics underlying immunodeficiency disorders in Norwegian patients, which was in concert with Dr. Orange starting at Baylor, said Shearer. Dr. Orange led the initiative that enriched the project by bringing in collaborators from other institutions, including major Latin American centers in Argentina, Brazil, Chile, Colombia, Ecuador, México, and Perú.. Given that Houston is a frequent entry point from these regions the team is hopeful that it all leads to a durable flow of ideas, science and care.. In Quito, Ecuador, our resources for medical care and diagnosis of PIDDs are nearly zero, said Dr. Luis Alberto Pedroza, professor at Universidad San Francisco de Quito. Drs. Orange and Lupski gave us the opportunity to improve the situation of our PIDD patients, starting with a genetic diagnosis. For some of our patients the genetic diagnosis ...
If you have a primary immunodeficiency disease with the diagnosis codes 279.04, 279.05, 279.06, 279.12, or 279.2, your IVIG/SCIG treatment is reimbursed under Medicare Part B. If your provider submits the IVIG/SCIG service claim under Part D, it will most likely be denied. Your provider will have to reprocess and submit those IVIG/SCIG claims through Medicare Part B.. In some cases, a Medicare Advantage plan may cover other primary immunodeficiency disease diagnosis codes under Part D. You should check with your Medicare Advantage provider to see how they are processing your claim.. ...
BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations in the DNA methyltransferase gene DNMT3B in some, but not all, ICF patients. OBJECTIVE: To obtain a comprehensive description of the clinical features of this syndrome as well as genotype-phenotype correlations in ICF patients. METHODS: Data on ICF patients were obtained by literature search and additional information by means of questionnaires to corresponding authors. Results and CONCLUSIONS: 45 patients all with proven centromeric instability were included in this study. Facial dysmorphism was found to be a common characteristic (n = 41/42), especially epicanthic folds, hypertelorism, flat nasal ...
A group from Baylor College of Medicine and Texas Childrens Cancer Center summarized the efficacy of treating viral infections with viral-specific T lymphocytes (VSTs) in patients with primary immunodeficiencies (PIDs). The group analyzed 36 patients who were treated with one or more VST infusions before or after undergoing hematopoietic stem cell transplantation (HSCT), and they found that complete or partial antiviral responses were seen in 86% of patients with CMV, 76% of patients with EBV and all patients with adenovirus or HHV-6. There were no associated complications.. Viral reactivation after HSCT can, in some cases, lead to life-threatening complications, and individuals with PIDs are at an even greater risk of developing viremia due to the absence of T cell activity against infections (Wehr 2015). The use of immunosuppressive medications further increases the chance of reactivation post-transplant (Inazawa 2015). As VST infusions have been successful in treating HSCT patients (Leen ...
Thank you for replying to Mr Luff with regard to the difficulty some people who live with a Primary Immune Deficiency experience when being assessed by medical practitioners who have no knowledge of these Rare Diseases.. Thank you for replying to Mr Luff with regard to the difficulty some people who live with a Primary Immune Deficiency experience when being assessed by medical practitioners who have no knowledge of these Rare Diseases.. The effects of these diseases vary immensely from person to person and our members ask us for help both in situations in which they would like to work, but feel that they are being discriminated against, and in situations where they are too unwell to work and have to face assessment.. ...
Many diseases have a genetic origin and are passed on in families. Most primary immunodeficiency diseases are inherited in one of three different ways: X-linked recessive, autosomal recessive or autosomal dominant. Family history and laboratory studies can be helpful in establishing the possible role of genes or chromosomes in a particular primary immunodeficiency disease and
Genetic testing plays a critical role in diagnosis for many primary immunodeficiency diseases. The goals of this report are to outline some of the challenges that clinical immunologists face routinely in the use of genetic testing for patient care. In addition, we provide a review of the types of ge …
Looking for online definition of immunodeficiency disorder in the Medical Dictionary? immunodeficiency disorder explanation free. What is immunodeficiency disorder? Meaning of immunodeficiency disorder medical term. What does immunodeficiency disorder mean?
Looking for online definition of severe combined immunodeficiency disorder in the Medical Dictionary? severe combined immunodeficiency disorder explanation free. What is severe combined immunodeficiency disorder? Meaning of severe combined immunodeficiency disorder medical term. What does severe combined immunodeficiency disorder mean?
A hallmark of the syndrome is an increased concentration of immunoglobulin E in the serum, exceeding 2000 U/ml, frequently higher than 5000 U/ml, and in single cases even exceeding 100 000 U/ml [5, 7, 34]. A value of 2000 U/ml is considered to be the cut-off point, which has proved helpful in establishing a definitive diagnosis of the syndrome [6]. Nevertheless, not in all patients, particularly in infants, are these criteria fulfilled; although characteristic concentration of IgE may be expected in the third decade of life or even later. Typically in adulthood, in a subset of patients IgE levels may decrease with age and may fall within a normal range in about 20% of cases [34]. Interestingly, the severity of infectious complications in patients with hyper-IgE syndrome do not correlate with immunoglobulin E concentration in the serum. Muhammed [81] reported on two HIES pediatric patients presenting with recurrent cutaneous lesions, severe respiratory infections and moderately elevated levels of ...
Dose dependent increases in absolute neutrophil and lymphocyte counts observed in all patients treated with X4P-001-RD. X4P-001-RD was well tolerated and a recommended dose of future Phase 3 study has been established. Interim report from the Phase 2 study presented at the 23rd European Hematology Association Congress CAMBRIDGE, MA - June 15, 2018 - X4 Pharmaceuticals, a clinical stage biotechnology company developing novel CXCR4 allosteric antagonist drugs to improve immune cell trafficking to treat cancer and rare disease, today announced the presentation of clinical data demonstrating safety and promising activity of X4P-001-RD in patients with WHIM syndrome, a rare primary immunodeficiency disease. The X4P-001-RD clinical data is from the ongoing open-label Phase 2 portion of a Phase 2/3 study in patients with WHIM syndrome, and the presentation was made at the 23rd Congress of the European Hematology Association (EHA) taking place on June 14-17, 2018 in Stockholm, Sweden.. The interim ...
Looking for combined immunological deficiency disease? Find out information about combined immunological deficiency disease. A severe and usually fatal disease in which the individual lacks not only the T cells, which are responsible for graft rejection and for defense against... Explanation of combined immunological deficiency disease
Immunology continues to have an ever-expanding role in medicine. The initial clinical area of focus was immunodeficiency, which is the subject of this book. This multiauthored text includes the usual chapters on primary immunodeficiency, as well as information on secondary immunodeficiencies. Secondary immunodeficiencies associated with the newborn; old age; malnutrition; viral, protozoan, and helminth infections; and neoplastic disease are included. The area of primary immunodeficiencies include immunoglobulin deficiency including selective IgA deficiency, metabolic deficiencies, the complement system, phagocytosis, and T-lymphocyte deficiencies. The book was originated by the Scientific Group on Immunodeficiency convened by the World Health Organization, and includes contributions ...
Board-certified pediatric allergist/immunologists in the Division of Allergy, Asthma & Immunology specialize in the treatment of patients with IgE mediated diseases including asthma, allergic rhinitis, atopic dermatitis, food allergy, urticaria, angioedema, and stinging insect and drug allergy. In collaboration with physicians from the Division of Gastroenterology and Nutrition, allergists in the Division assist in the evaluation of patients with eosinophilic gastrointestinal diseases such as Eosinophilic Esophagitis (EoE). Division clinical immunologists diagnose and treat children with primary immune deficiencies including Severe Combined Immune Deficiency (SCID), primary antibody deficiencies, phagocyte deficiencies and complement deficiencies. Faculty research interests include studies related to the diagnosis and management of drug allergy and food allergy and the role of chronic infection, particularly with bacteria called mycoplasmas, in chronic diseases such as asthma and arthritis.. ...
The International Nursing Group for Immunodeficiencies (INGID) was formed in 1994 by nurses who were working with children and adults diagnosed with primary immunodeficiency disorders.
Common variable immunodeficiency (CVID), one of the most prevalent primary immunodeficiency diseases, is a heterogeneous group of immunologic disorders of unknown etiology. CVID is characterized by ma... more
Brutons tyrosine kinase (BTK) is a non-receptor kinase that plays a crucial role in oncogenic signaling that is critical for proliferation and survival of leukemic cells in many B cell malignancies. BTK was initially shown to be defective in the primary immunodeficiency X-linked agammaglobulinemia (XLA) and is essential both for B cell development and function of mature B cells. Shortly after its discovery, BTK was placed in the signal transduction pathway downstream of the B cell antigen receptor (BCR). More recently, small-molecule inhibitors of this kinase have shown excellent anti-tumor activity, first in animal models and subsequently in clinical studies ...
Expertise, Disease and Conditions: Allergy and Immunology, Antibody Deficiency, Ataxia-Telangiectasia, Chronic Granulomatous Disease, Common Variable Immunodeficiency, Complement Deficiency, DiGeorge Syndrome, Gamma Globulin Therapy, Hyper-IgE Syndrome, Hyper-IgM Syndrome, Hypogammaglobulinemia, IgA Deficiency, IgM Deficiency, Leukocyte Adhesion Deficiency, Primary Immunodeficiency Diseases, Severe Combined Immunodeficiency (SCID), Wiskott-Aldrich Syndrome, X-linked ...
Expertise, Disease and Conditions: Allergy and Immunology, Antibody Deficiency, Ataxia-Telangiectasia, Chronic Granulomatous Disease, Common Variable Immunodeficiency, Complement Deficiency, DiGeorge Syndrome, Gamma Globulin Therapy, Hyper-IgE Syndrome, Hyper-IgM Syndrome, Hypogammaglobulinemia, IgA Deficiency, IgM Deficiency, Leukocyte Adhesion Deficiency, Primary Immunodeficiency Diseases, Severe Combined Immunodeficiency (SCID), Wiskott-Aldrich Syndrome, X-linked ...
WHIM Syndrome (or Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome) is a rare congenital immunodeficiency disorder characterized by chronic noncyclic neutropenia. WHIM syndrome results from autosomal dominant mutations in the gene for the chemokine receptor, CXCR4, resulting in a carboxy-terminus truncation of the receptor of between ten and 19 residues. The gene mutant is located on 2q21. The truncation of the receptor protein results in the inability of downregulation after stimulation. Thus, the receptor remain in an activated state. WHIM syndrome is one of only a few diseases directly and primarily caused by an aberrant chemokine, making its molecular biology important in understanding the role of cell signaling and trafficking. An association with GRK3 has also been observed. Patients exhibit increased susceptibility to bacterial and viral infections, especially from common serotype human papilloma virus, resulting in warts on the hands and feet starting in ...
Educational Resources provides the following:. The mannose binding lectin pathway: function and diseases The MBL pathway demystified for clinicians. Atypical hemolytic uremic syndrome and complement regulatory protein deficiencies An excellent overview of this new phenotype associated with complement disorders. Adult hypogammaglobulinemia: CVID and thymoma Common variable immune deficiency review. The genetics and the association with thymoma are particularly well reviewed. European Consensus Document - C1 Esterase Inhibitor Deficiency A very comprehensive document covering diagnosis, pathophysiology and therapy. Practice Parameters: Primary Immunodeficiencies An excellent overview of accepted diagnosis and treatment. Complement Deficiencies A brief overview of the clinical manifestations and inheritance. Fetal and Neonatal Immunologic Development A comparison of the onset of different immunologic effector arms. Primary Immunodeficiencies A table of common immunodeficiencies suitable for ...
The Immune Deficiency Foundation (IDF) brings together the primary immunodeficiency community biennially for a three-day conference-the IDF National Conference, the worlds largest gathering of individuals and families living with primary immunodeficiency diseases (PI).. From physicians to nurses to specialized life management experts, individuals and families are presented with an unsurpassed opportunity to learn and connect.. Join us for the IDF 2017 National Conference in Anaheim, CA, our 9th national conference, June 15-17. This year, IDF will offer a Special Severe Combined Immune Deficiency (SCID) & SCID Variant Symposium for individuals and families living with SCID.. The symposium will include presentations from experts in the field regarding SCID. There will be extended sessions this year, allowing attendees more time together to learn from each other and ask questions. This is a perfect opportunity to get to know others and become a part of the SCID family. Even if you have attended an ...
DiGeorge syndrome may manifest as severe immunodeficiency diagnosed at infancy. The diagnosis of primary immunodeficiency is based on characteristic clinical features, immunophenotyping by flow cytometry, molecular diagnostics and functional lymphocyte evaluation. At autopsy, gross evaluation, conventional histology and immunohistochemistry may be useful for the diagnosis of primary immunodeficiency. This case report illustrates the application of autopsy and immunohistochemistry in the diagnosis of DiGeorge syndrome. A four-month-old African female infant died while undergoing treatment at Kenyatta National Hospital, a Referral and Teaching Hospital in Nairobi, Kenya. She presented with a months history of recurrent respiratory infections, a subsequent decline in the level of consciousness and succumbed to her illness within four days. Her two older siblings died following similar circumstances at ages 3 and 5 months respectively. Autopsy revealed thymic aplasia, bronchopneumonia and invasive ...
We report the case of a young woman who developed, 3 years after stopping Rituximab (RTX) prescribed for immune thrombocytopenia (ITP), a severe immunodeficiency leading to fatal pulmonary Epstein–Barr virus-positive diffuse large B-cell lymphoma. Genetic analysis led us to identify four missense mutations known to affect immune-deficiency–associated genes (FAS-ligand (|i|FASL|/i|) gene (p.G167R); perforin-1 (|i|PRF1|/i| (p.R55C) gene; the Bloom syndrome RecQ-Like helicase (|i|BLM|/i|) gene and the Moesin (|i|MSN|/i|) (p.A122T) gene). The heterozygous mutation in the |i|FASL|/i| gene, not present in the Genome Aggregation Database or ClinVar database, could suggest atypical Autoimmune LymphoProliferative Syndrome and its role in this patient’s immunodepression is discussed. This observation strengthens the role of |i|FASL|/i| gene mutation in severe clinical phenotypes of primary immune deficiency and raises new questions about the genetic background of ITP occurring in young people
Common Variable Immunodeficiency (CVID) is a group of 20 to 30 primary immune deficiency disorders characterized by low levels of specific immunoglobulins or antibodies produced by the immune system to fight infections or disease. In CVID, frequent bacterial infections may occur in the skin, the sinuses, the throat, the ears, the lungs, the brain, spinal cord, or in the urinary or intestinal tracts. The increased vulnerability to infection may include repeated infections, infections that wont clear up or unusually severe infections. People with CVID diseases live their entire lives more susceptible to infections--enduring recurrent health problems and often developing serious and debilitating illnesses ...
Understanding Severe Chronic Neutropenia_SCNIR. Severe Chronic Neutropenia International Registry (SCNIR) Medical School Hannover Carl-Neuberg-Str. 1. 30625 Hannover. Germany. Tel +49/511-557105. Fax +49/511-557106. www.scner.de. ...
This teaching clinic provides consultations, education, support for patients choosing SCIG home infusion therapy throughout BC. Patients must have a doctor referral. Physicians can download a referral form by clicking here. Location and Contact 8th floor Providence Building, Room 8037 1081 Burrard Street Vancouver, BC, V6Z 1Y6 Phone: 604-682-2344 local 66555 Fax: 604-806-9647
DiGeorge syndrome (22q11 deletion) is a rare primary immunodeficiency disease in children that causes low levels of a special type of white blood cell called a T cell that fights infections. In about 1-2% of cases, some children have a life expectancy of two or three years. Many, however, reach adulthood and have a relatively normal life span.
DUBAI // Bubble babies at risk from the slightest infection as a result of rare genetic conditions will soon benefit from treatment unveiled at the Arab Health Congress on Tuesday.. Gene therapy will provide a lifeline for young children in the Middle East, which suffers from the highest rates of genetic diseases in the world.. The process involves ineffective genes copied and replaced in a patients body to help restore the working order of a healthy body.. One child to benefit from the latest developments is four-year-old Khalifa Al Qemzi, who was treated in the UK.. He was one of the first in the region to benefit from gene therapy after severe combined immunodeficiency (SCID) was diagnosed at a hospital in Abu Dhabi.. The rare genetic condition is a primary immune deficiency, causing the child to have very little or no immune system, leaving them exposed to the slightest infection.. Up until recently, bone marrow transplants were the only way to effectively treat such ...
Laboratory of Dr. Dan Mueller. Research Emphasis/Pubications: Tolerance and autoimmunity - Rheumatoid arthritis, Epigenetics: Molecular mechanisms of transcriptional regulation in anergic and effector CD4+ T-cells. Differential gene expression profiles associated with the induction of clonal anergy. Gene expression profile analysis of CD4+ T follicular helper (Tfh) cells vs CD4+ T helper (Th) cells. List of all Publications. Current Position: Assistant Professor, Pediatrics-Allergy & Immunology, Baylor College of Medicine and Director, Primary Immunodeficiency Diseases Clinical Immunology Laboratory, Pediatrics Allergy, Immunology and Rheumatology, Texas Childrens Hospital, Houston, ...
57: Cell-Mediated Immunity in Health and Disease 58: Immune Complexes and Allergic Disease 59: Primary Immunodeficiency Diseases 60: Approach to the Patient with Recurrent Infections 61: Immunology of HIV Infection and Its Relationship to Allergic Diseases 62: Clinical Significance of IgE 63: Eosinophilia and Easinophil-Related Disorders 64: Epidemiology of Asthma and Allergic Diseases 65: Allergic Disease in Childhood A) Natural History, Development, and Prevention B) Early Childhood Correlates of Allergic Disease 66: Asthma: Definition and of Allergic Disease in Pathogenesis 67: Pathology of Asthma Compared with Chronic Obstructive Pulmonary Disease 68: Asthma in Infancy and Childhood 69: Asthma in Adults: Evaluation and Management 70: Asthma Guidelines and Outcomes 71: Asthma and Allergic Diseases During Pregnancy 72: Exercise-Induced Airway Narrowing 73: Occupational Asthma 74: Allergic Bronchopulmonary Aspergillosis 75: Hypersensitivity Pneumonitis 76: Allergic and Nonallergic Rhinitis 77: ...
July 2011. 100 marks. 3 Hours. 1. Draw the coagulation pathway. Describe the treatment and care of a child with Haemophilia. (3+4+3). 2. Classify Primary Immunodeficiency diseases. Draw diagnostic testing algorithm for the same. (4+6).. 3. Describe causes and diagnostic approach for a child with Hypercalcemia. Write in brief treatment of malignant Hypercalcemia. (3+4+3). 4. Describe etiology, pathophysiology, treatment and complication of Bacterial meningitis in a 1 year old child. (3+2+3+2). 5. 10 day old neonate brought with H/o Poor feeding, vomiting and drowsiness. How will you approach ( including history, clinical examination and diagnostic tests) this patient? (3+4+4). 6. 12 year old girl is brought with complaints of Fainting 3 times in last 10 days. Discuss differential diagnosis, investigations and treatment.(4+3+3). 7. Define short stature. Enumerate the causes of disproportionate short stature. Mention in brief abnormalities in Achondroplasia. (2+3+5). 8. Clinical features and ...
Dr. Mark Wurth is a pediatric pulmonologist at the UK Kentucky Clinic Pediatric Specialty Clinic. He is a native of Henderson, Ky. and completed his undergraduate work, a PhD and medical school at UK.. Dr. Wurths clinical interests include severe asthma and phenotype driven therapeutics for asthma management, and he is currently section head of pediatric allergy and immunology. His research interests include understanding the immune response that drives mold allergy in severe asthma and allergic bronchopulmonary mycosis. In addition to his clinical work and research, Dr. Wurth teaches first year medical students about primary immunodeficiency diseases.. ...
Granulomas are most commonly associated with infections, especially the fungal infection histoplasmosis, states Mayo Clinic. They are also associated with a primary immunodeficiency disease known as...
At the age of 33 she was diagnosed with primary antibody deficiency on the basis of recurrent pneumonia, autoimmune disease, borderline low and falling total IgG, low IgG2 subclass, and failure to produce a specific IgG response to tetanus and pneumovax immunisations. Intravenous immunoglobulin replacement treatment was started. In the six years before the above presentation she had also described intermittent watery diarrhoea, controlled with loperamide and on several occasions remitted when the steroid dose for ITP was increased. Stool culture and parasitology, abdominal ultrasound scan, gastroscopy and duodenal biopsy, flexible sigmoidoscopy, barium meal and follow through, and barium enema were all normal. Biopsies of the rectum and sigmoid colon showed a chronic inflammatory cell infiltrate compatible with immunodeficiency.. Other problems included hypoadrenalism attributed to either prolonged steroid use or autoimmune disease, and premature ovarian failure. She also had an autonomic ...
Fighting a rare immune deficiency disease Forrest Mounts healthy appearance and positive attitude belie the struggles he has endured for over two decades. From the age of 19, Forrest battled constant and severe infections (sinus, respiratory and ear, primarily) baffling doctors. After years of inquiry, he was finally diagnosed with Common Variable Immune Deficiency (CVID) at 26 years old. Yet, in Forrests case, there is nothing common about this disease. He is essentially aglobulinemic meanin
TY - JOUR. T1 - Increased serum IgM, immunodeficiency, and autoimmunity. T2 - A clinical series. AU - Picchianti Diamanti, Andrea. AU - Rosado, M. Manuela. AU - Scarsella, Marco. AU - Ceccarelli, Sara. AU - Laganà, Bruno. AU - DAmelio, Raffaele. AU - Carsetti, Rita. PY - 2015/12/1. Y1 - 2015/12/1. N2 - Background: Primary immunodeficiencies (PIDs) are generally characterized by recurrent infections; however they may be complicated by other clinical disorders such as allergy, autoimmunity, and lymphoproliferation. In particular, autoimmunity may be the first manifestation of the disease in patients with low serum immunoglobulins (Ig) levels. Here we describe a group of patients that share features of immunodeficiency and autoimmunity. Materials and Methods: All patients went through a complete T and B cell subset characterization and a B cell function analysis in the peripheral blood by flow-cytometry. B cell proliferation and plasma cell differentiation was measured, in vitro, after CpG ...
Immune system disorder, any of various failures in the bodys defense mechanisms against infectious organisms. Disorders of immunity include immune deficiency diseases, such as AIDS, that arise because...
The present uncertainty of which live viral or bacterial vaccines can be given to immunodeficient patients and the growing neglect of societal adherence to routine immunizations has prompted the Medical Advisory Committee of the Immune Deficiency Foundation to issue recommendations based on published literature and the collective experience of the committee members. These recommendations address the concern for immunodeficient patients acquiring infections from healthy subjects who have not been immunized or who are shedding live vaccine-derived viral or bacterial organisms. Such transmission of infectious agents can occur within the hospital, clinic, or home or at any public gathering. Collectively, we define this type of transmission as close-contact spread of infectious disease that is particularly relevant in patients with impaired immunity who might have an infection when exposed to subjects carrying vaccine-preventable infectious diseases or who have recently received a live vaccine. ...
Douglas W. Hanto, Glauco Frizzera, David T. Purtilo, Kiyoshi Sakamoto, John L. Sullivan, Ari K. Saemundsen, George Klein, Richard L. Simmons, John S. Najarian ...
Asthma/Allergy and Clinical Immunology treats patients with asthma, hay fever, hives, sinusitis, food allergies, eczema and primary immune deficiencies.
The clinical use of intravenous immunoglobulin (IVIg) has extended beyond its traditional place in the treating patients with primary immunodeficiencies. (HLA)-sensitized patients to Pitavastatin calcium inhibitor database lessen anti-HLA antibody amounts, thereby enabling transplantation in these sufferers. Second of all, IVIg in conjunction with Pitavastatin calcium inhibitor database rituximab works well in the treating antibody-mediated rejection pursuing transplantation. Treatment with polyclonal IVIg is normally a promising adjunctive therapy for serious sepsis and septic shock, but its make use of continues to be controversial and additional study is necessary before it could be suggested routinely. This review covers brand-new advancements in these areas and highlights the wide range of potential therapeutic areas where IVIg may possess a scientific impact. Pitavastatin calcium inhibitor database = 0035). Nevertheless, this was a brief trial of just three months, so theres still ...
Hello,Herpes zoster can appear in normal persons and not necessarily immunodeficient.The difference here is that in normal people single nerve root is involved but in immunodeficiency multiple dermatomes may be involved.Also when it heals in immune deficiencies a post inflammatory whitish pigment is left behind.But it would be good here to get tested if there is any exposure to STD especially if you have not taken precautions ...
Dr. Michael Pulsipher is the Section Head of Blood and Marrow Transplantation at the Childrens Hospital Los Angeles. He attended medical school at Stanford, followed by pediatric residency at Childrens Hospital of Philadelphia and fellowship at Boston Childrens/Dana Farber Cancer Institute. He had an initial faculty appointment at Harvard, followed by 16 years at the University of Utah/Primary Childrens Hospital, where he directed the adult and pediatric BMT programs. He recently came to CHLA where he holds an endowed Chair in BMT clinical research. Dr. Pulsiphers areas of research focus include innovative approaches to transplantation of children with acute lymphoblastic leukemia, reduced toxicity approaches to transplant, donor safety, and transplantation of nonmalignant disorders such as bone marrow failure diseases and immune deficiencies. His early work focused on gene therapy for and molecular pathways associated with Fanconi anemia, a rare syndrome resulting in marrow failure and ...
With operations in 35+ nations and 20,000 employees worldwide, CSL is driven to develop and deliver a broad range of lifesaving therapies to treat disorders such as hemophilia and primary immune deficiencies, and vaccines to prevent influenza. Our therapies are also used in cardiac surgery, organ transplantation and burn treatment.. CSL is the parent company of CSL Behring and Seqirus. CSL Behring at http://www.cslbehring.com is a global leader in the protein biotherapeutics industry, focused on bringing to market biotherapies used to treat serious and often rare conditions. CSL Behring operates CSL Plasma at http://www.cslplasma.com/careers , one of the worlds largest collectors of human plasma, which is used to create CSLs therapies. Seqirus is the second largest influenza vaccine company in the world and is a transcontinental partner in pandemic preparedness and a major contributor to the prevention and control of influenza globally.. We invite you to take a look at the many career ...
The RAG1/RAG2 (RAG) endonuclease recombines accessible antigen receptor (AgR) genes through DNA double strand break (DSB) intermediates to generate a diverse AgR repertoire. RAG-mediated DSBs signal changes in expression of genes encoding proteins involved in cellular survival, lymphocyte differentiation, and AgR selection. RAG proteins are each comprised of core endonuclease domains and dispensable non-core regions. Humans with mutations in non-core RAG1 regions exhibit fatal primary immunodeficiencies, and mice expressing truncated core, but not full-length, Rag1 protein (Rag1C/C mice) exhibit impaired early lymphocyte development associated with reduced levels of AgR gene rearrangements. In addition to serving with RAG2 as the V(D)J endonuclease, the RAG1 protein has been proposed to utilize non-core regions to regulate V(D)J recombination by enhancing AgR locus accessibility, promoting efficient RAG endonuclease activity, and/or generating RAG DSB-induced survival and differentiation signals.
Grifols maintains a long history of commitment to science and research dating back to the 1940s.The Global Bioscience Investigator Sponsored Research (ISR) program is exemplary of this commitment.. The program provides support to external researchers who have an interest in advancing scientific knowledge in therapeutic areas that are strategically aligned with Grifols Bioscience business interests such as immune deficiencies, neurologic conditions responsive to IgG therapy, COPD and alpha-1-antitrypsin deficiency, coagulation and anticoagulation, shock and trauma, cirrhosis and ascites, and inflammation underlying various conditions.. ISR studies are generally hypothesis generating and/or provide proof of concept. They may be:. ...
Relationship to acquired immune deficiency syndrome (AIDS)" (PDF). The Journal of Clinical Investigation. 71 (5): 1500-4. doi: ... Landay, A; Poon, M. C; Abo, T; Stagno, S; Lurie, A; Cooper, M. D (1983). "Immunologic studies in asymptomatic hemophilia ... Middle East respiratory syndrome (MERS) was first reported in Saudi Arabia during June 2012 when a local man was initially ... Chinese scientists first discovered the severe acute respiratory syndrome (SARS) coronavirus in February 2003, but due to ...
... with estrogen being considered one of the biggest factors responsible for sex-immunologic dimorphism. Estrogen deficiency ... Sjögren syndrome or Sjögren's syndrome (SjS, SS) is a long-term autoimmune disease that affects the body's moisture-producing ( ... Sjögren syndrome at NHS Choices Sjögren syndrome - US National Institute of Arthritis and Musculoskeletal and Skin Diseases US ... Sjögren's syndrome can be excluded from people with past head and neck radiation therapy, acquired immunodeficiency syndrome, ...
... an immunologic screen to test immune system response to antigen may be used although a genetic test is the only way to be ... NEMO deficiency syndrome information, Great Ormond Street Hospital for Children "NEMO deficiency syndrome". Retrieved 2017-01- ... This autosomal dominant type of NEMO deficiency syndrome can affect both boys and girls. NEMO deficiency syndrome may present ... Originally NEMO deficiency syndrome was thought to be a combination of Ectodermal Dysplasia (ED) and a lack of immune function ...
An immunologic mechanism to explain the link between glycosylation abnormalities and the immune dysregulation has not yet been ... Often patients present with similar manifestations to Hyperimmunoglobulin E syndrome (HIES), including severe atopic dermatitis ... PGM3 deficiency is inherited in an autosomal recessive manner. Autosomal refers to the fact that every person has two PGM3 ... PGM3 deficiency is a rare genetic disorder of the immune system associated with diminished phosphoglucomutase 3 function. PGM3 ...
Journal of Acquired Immune Deficiency Syndromes and Human Retrovirology. 17 (4): 320-326. doi:10.1097/00042560-199804010-00005 ... 1998-04-01). "Virologic, Immunologic, and Clinical Parameters in the Incidence and Progression of Anal Squamous Intraepithelial ... Journal of Acquired Immune Deficiency Syndromes and Human Retrovirology. 17 (4): 314-319. doi:10.1097/00042560-199804010-00004 ...
Italian Seroconversion Study". Journal of Acquired Immune Deficiency Syndromes and Human Retrovirology. 20 (3): 275-282. doi: ... Buchbinder, S.P.; M.H. Katz; N.A. Hessol; P.M. O'Malley; S.D. Holmberg (1994). "Long-term HIV-1 infection without immunologic ... Journal of Acquired Immune Deficiency Syndromes. 22 (5): 509-516. doi:10.1097/00126334-199912150-00013. PMID 10961614. ... French, N.; A. Mujugira; J. Nakiyingi; D. Mulder; E.N. Janoff; C.R. Gilks (1999). "Immunologic and clinical stages in HIV-1- ...
Journal of Acquired Immune Deficiency Syndromes. 29 (3): 307-313. doi:10.1097/00042560-200203010-00013. PMID 11873082. Freedman ... Immunologic Research. 27 (2-3): 261-276. doi:10.1385/IR:27:2-3:261. PMID 12857973. S2CID 32006625. Esté JA (September 2003). " ... January 2008). "Genetic deficiency of chemokine receptor CCR5 is a strong risk factor for symptomatic West Nile virus infection ... Dawson TC, Beck MA, Kuziel WA, Henderson F, Maeda N (June 2000). "Contrasting effects of CCR5 and CCR2 deficiency in the ...
Intestinal immunologic dysfunction, including deficiencies in secretory immunoglobulin A (IgA), may predispose people to ... overgrowth and tropical sprue has been proposed to be involved in the aetiology of post-infectious irritable bowel syndrome ( ... These deficiencies may have these symptoms: Vitamin A deficiency: hyperkeratosis or skin scales Vitamin B12 and folic acid ... and tingling sensation Vitamin D and calcium deficiencies: spasm, bone pain, muscle weakness Vitamin K deficiency: bruises The ...
Gadola, S. D.; Moins-Teisserenc, H. T.; Trowsdale, J.; Gross, W. L.; Cerundolo, V. (August 2000). "TAP deficiency syndrome. ... "Immunologic Disease and Disorders". Archived from the original on 2007-02-17. Reith W, Mach B (2001). "The bare lymphocyte ... TAP (transporter associated with antigen presentation) deficiency syndrome is the best characterized of BLS I. Symptoms can ... "HLA class I deficiency", which is much more rare, is associated with TAP2, TAP1, or TAPBP deficiencies. The TAP proteins are ...
The New England Journal paper included the first description of the CD-4 T cell deficiency which is the immunologic hallmark of ... Initially, the researchers termed the disease Gay-Related Immune Deficiency (GRID); in 1982 this syndrome became known as AIDS ... is an American physician and immunologist known for his 1981 identification of acquired immune deficiency syndrome (AIDS) as a ... Beginning in January 1981, Gottlieb, then thirty-three, and several colleagues identified an apparent novel immunologic ...
Blood work may also show thyroid and vitamin D deficiency. Kidneys on ultrasound imaging may appear enlarged and brighter ( ... hepatitis B Immunologic: maternal systemic lupus erythematosus An examination reveals massive fluid retention and generalized ... Mutations lead to several types of developmental syndromes, including Denys-Drash syndrome, Frasier syndrome, WAGR syndrome ( ... ISBN 978-0-323-04883-5. OMIM: 256300 Congenital nephrotic syndrome, Finnish type; Congenital nephrotic syndrome 1 at NIH's ...
B and NK Lymphocyte deficiency (i.e. MonoMAC or MonoMAC/DCML); 2) Emberger syndrome; 3) familial myelodysplastic syndrome/acute ... Immunologic: Increased susceptibility to infections caused by human papillomavirus, Herpes simplex, Varicella zoster virus, ... The presentations of GATA2 deficiency commonly fall into various categories with MonoMAC and Emberger syndrome in the past and ... GATA 2 deficiency has been diagnosed in rare cases presenting as humoral immune deficiency due to B cell depletion, severe ...
If investigations reveal deficiency states, correction of the deficiency may result in resolution of the ulceration. For ... MAGIC syndrome is a possible variant of Behçet's disease, and is associated with aphthous-like ulceration. The name stands for ... Slebioda Z, Szponar E, Kowalska A (June 2014). "Etiopathogenesis of recurrent aphthous stomatitis and the role of immunologic ... Even in the absence of deficiency, vitamin B12 supplementation may be helpful due to unclear mechanisms. Hematinic deficiencies ...
... thrombocytopenia Immunologic: Stevens-Johnson syndrome, toxic epidermal necrolysis Metabolic: elevated creatine kinase, ... Deficiencies such as vitamin B12 deficiency, iron deficiency, and calcium deficiency may be seen with long term use. Vitamin ... It can also be used for long-term treatment of Zollinger-Ellison syndrome. It may be used to prevent gastric ulcers in those ... and vitamin B12 deficiency. Use in pregnancy appears to be safe. Pantoprazole is a proton pump inhibitor that decreases gastric ...
"The autoimmune lymphoproliferative syndrome: An experiment of nature involving lymphocyte apoptosis". Immunologic Research. 40 ... 20% of patients CEDS: Caspase 8 deficiency state. No longer considered a subtype of ALPS but distinct disorder RALD: NRAS, KRAS ... 2005). "Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS ... "Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: A multi-institutional study". Blood. 115 ( ...
... mutations and their relationship to autosomal-dominant Hyper IgE syndrome He serves on committees for the Immune Deficiency ... and Jerry A.Winklestein Immunologic Disorders in Infants and Children, Saunders, 2004, 5th Edition, ISBN 978-0-7216-8964-7, ... Hyper IgM syndrome, X-linked agammaglobulinemia, IPEX syndrome and autosomal dominante Hyper IgE syndrome. To improve the long- ... Wiskott-Aldrich syndrome, chronic granulomatous disease, and X-linked hyper-immunoglobulin M syndrome. The Ochs / Torgerson Lab ...
"Iodine Deficiency". Hollingsworth, Dorothy R. (1977). "Kentucky Appalachian Goiter Without Iodine Deficiency". American Journal ... 134-5. ISBN 0-671-62028-2. Basedow's syndrome or disease at Who Named It? - the history and naming of the disease Ljunggren JG ... immunologic stimulation of diffuse goitre, and ocular changes (exophthalmos). Hypothyroid people commonly have poor appetite, ... If goitre is caused by iodine deficiency, small doses of iodide in the form of Lugol's iodine or KI solution are given. If the ...
Skin immunologic testing (allergy testing) may reveal hyposensitivity. Individuals with Wiskott-Aldrich syndrome however are at ... including Wiskott-Aldrich syndrome WAS X-linked thrombocytopenia XLT and X-linked congenital neutropenia XLN Immune Deficiency ... The syndrome is named after Dr. Alfred Wiskott (1898-1978), a German pediatrician who first noticed the syndrome in 1937, and ... While still a rare disease, this makes it more common than many genetic immunodeficiency syndromes such as hyper-IgM syndrome ...
Oliveira, JB; Rao, VK; Su, H; Lenardo, M (2014). "Chapter 50: Monogenic autoimmune lymphoproliferative syndromes". In Ian R. ... Clinical features suggesting CEDS should be investigated by immunologic studies assessing serum immunoglobulin levels, antibody ... Caspase-8 deficiency (CEDS) is a very rare genetic disorder of the immune system. It is caused by mutations in the CASP8 gene ... The mutations lead to functional caspase-8 deficiency by destabilizing the caspase-8 protein and inactivating its enzymatic ...
The syndrome is also referred to by the acronym X-Linked-PDR or XLPRD. It's a very rare disease, genetically determined, with a ... discovered that POLA1 deficiency is associated with decreased direct cytotoxicity of NK cells due to disturbances in vesicular ... A path for definitive treatment for XLPDR is at present unclear, but it is tempting to speculate whether the immunologic ... Waardenburg syndrome List of cutaneous conditions Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. ...
In cats, taurine deficiency is the most common cause of dilated cardiomyopathy. As opposed to these hereditary forms, non- ... in Alström syndrome), X-linked (as in Duchenne muscular dystrophy), and mitochondrial inheritance of the disease is also found ... such as with Coxsackie B virus and other enteroviruses possibly mediated through an immunologic mechanism. Specific ... Autoimmune mechanisms Thiamine deficiency Recent studies have shown that those subjects with an extremely high occurrence ( ...
"An antibody-deficiency syndrome due to mutations in the CD19 gene". The New England Journal of Medicine. 354 (18): 1901-12. doi ... Carter RH, Wang Y, Brooks S (2002). "Role of CD19 signal transduction in B cell biology". Immunologic Research. 26 (1-3): 45-54 ... Mouse model research shows that CD19 deficiency can lead to hyporesponsiveness to transmembrane signals and weak T cell ... December 2014). "Defective B-cell memory in patients with Down syndrome". The Journal of Allergy and Clinical Immunology. 134 ( ...
... a syndrome). The top two syndromic causes of congenital heart defects are Noonan syndrome and Down syndrome. Down syndrome is ... Aortic regurgitation / aortic insufficiency - Deficiency of the aortic valve that permits regurgitation from the aorta into the ... or immunologic (systemic lupus erythematosus, sarcoidosis, and some of the vasculitides (see below)). Definitive diagnosis ... Sick sinus syndrome, Bradycardia-tachycardia syndrome (BTS) - Disease of the SA node that results in irregular changes in heart ...
Luteal phase progesterone deficiency may or may not be a contributing factor to miscarriage. Second trimester losses may be due ... A disruption in normal immune function can lead to the formation of antiphospholipid antibody syndrome. This will affect the ... Approximately 15% of recurrent miscarriages are related to immunologic factors. The presence of anti-thyroid autoantibodies is ... Nutrient deficiencies have not been found to impact miscarriage rates but hyperemesis gravidarum sometimes precedes a ...
Along with Alan Rosenberg, he described the syndrome of seronegativity, enthesitis and arthritis (SEA syndrome), its ... the influence of maternal anti-IgA antibodies on the occurrence of IgA deficiency in the offspring. He and colleagues first ... immunologic and histologic characteristics". The Journal of Rheumatology. 16 (4): 499-505. ISSN 0315-162X. PMID 2664171. ... A syndrome of seronegative enthesopathy and arthropathy in children. Arthritis Rheum. 1982;25(9):1041-1047. doi:10.1002/art. ...
The link with C1 esterase inhibitor deficiency was proved in 1963. Drug-induced angioedema Gleich's syndrome (unexplained ... Acquired angioedema (AAE) can be immunologic, nonimmunologic, or idiopathic. It is usually caused by allergy and occurs ... In this analysis, it is usually a reduced complement factor C4, rather than the C1-INH deficiency itself, that is detected. The ... The version related to bradykinin may occur due to an inherited problem known as C1 esterase inhibitor deficiency, medications ...
Mauro A, Orsi L, Mortara P, Costa P, Schiffer D (1991). "Cerebellar syndrome in adult celiac disease with vitamin E deficiency ... Wortsman J, Kumar V (1994). "Case report: idiopathic hypoparathyroidism co-existing with coeliac disease: immunologic studies ... B12 deficiency Megaloblastic anemia Pernicious anemia Vitamin D deficiency. Vitamin D deficiency can result in osteopenia and ... deficiency - Selenium and Zinc deficiencies may play a role increasing risk of cancer. Selenium deficiency may also be an ...
It is important that patients with cardiac, renal, or immunologic issues are identified and well-managed. Kabuki syndrome ... a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency". The Journal of ... Rare syndromes, Syndromes affecting the heart, Genodermatoses, Syndromes affecting hearing, Syndromes with craniofacial ... Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa-Kuroki syndrome) is a congenital disorder of ...
"Leaky gut syndrome" is a hypothetical, medically unrecognized condition. It has been popularized by some nutritionists and ... July 2013). "Deficiency of intestinal mucin-2 ameliorates experimental alcoholic liver disease in mice". Hepatology. 58 (1): ... However, these same events can lead to an inflammatory process in genetically predisposed individuals when the immunologic ... "Leaky gut syndrome". NHS Choices. 26 February 2015. Archived from the original on 2018-02-11. Retrieved 15 August 2016. Yarandi ...
While a medical student, he became interested in a new disease - acquired immune deficiency syndrome (AIDS).[citation needed] ... the neuro-HIV clinic and the neuro-infectious disease clinic at RUMC and learn to care for patients over the entire immunologic ... A novel clinical syndrome distinct from progressive multifocal leukoencephalopathy". Annals of Neurology. 57 (4): 576-80. doi: ...
For example, iron deficiency anemia is thought to cause depressed cell-mediated immunity. Some sources state that deficiencies ... candidiasis-endocrinopathy syndrome and candidiasis thymoma syndrome. About 90% of people with chronic mucocutaneous ... Saliva, which possesses both mechanical cleansing action and immunologic action, including salivary immunoglobulin A antibodies ... This refers to a group of rare syndromes characterized by chronic candidal lesions on the skin, in the mouth and on other ...
As such, patients with cholestasis may present with a deficiency in vitamins A, D, E, or K due to a decline in bile flow. ... Alagille syndrome is an autosomal dominant disorder that impacts five systems, including the liver, heart, skeleton, face, and ... February 2012). "Biochemical and immunologic effects of rituximab in patients with primary biliary cirrhosis and an incomplete ... "Vanishing Bile Duct Syndrome", LiverTox: Clinical and Research Information on Drug-Induced Liver Injury, Bethesda (MD): ...
Deficiency of factor XI causes the rare hemophilia C; this mainly occurs in Ashkenazi Jews and is believed to affect ... Low levels of factor XI also occur in many other disease states, including Noonan syndrome. High levels of factor XI have been ... Bouma BN, Vlooswijk RA, Griffin JH (Nov 1983). "Immunologic studies of human coagulation factor XI and its complex with high ... Asakai R, Chung DW, Davie EW, Seligsohn U (Jul 1991). "Factor XI deficiency in Ashkenazi Jews in Israel". The New England ...
Irritable bowel syndrome C1 Esterase inhibitor deficiency (hereditary angioedema), a rare disease, generally causes attacks of ... Notes Nester EW, Anderson DG, Roberts Jr CE, Nester MT (2009). "Immunologic Disorders". Microbiology: A Human Perspective (6th ... The syndrome has a strong inherited component; a family history of allergic diseases can be indicative of the atopic syndrome.[ ... It is not an immune reaction and is due to an enzyme deficiency (lactase). It is more common in many non-Western people. Celiac ...
It is widely used to treat primary Sjögren syndrome but does not appear to be effective. Hydroxychloroquine is widely used in ... glycosylation and secretion of proteins with many immunologic and nonimmunologic consequences. These effects are believed to be ... there may be a link between hydroxychloroquine and hemolytic anemia in those with glucose-6-phosphate dehydrogenase deficiency ... Wang SQ, Zhang LW, Wei P, Hua H (May 2017). "Is hydroxychloroquine effective in treating primary Sjogren's syndrome: a ...
... and NK cell deficiencies. These syndromes are caused by mutations that affect the maturation of the hematopoietic progenitor ... ISBN 978-0-12-380920-9. Gershwin, M. Eric; Merchant, Bruce (2012). Immunologic Defects in Laboratory Animals 1. Springer ... Autoimmune polyendocrine syndrome type 1, is a rare genetic autoimmune syndrome that results from a genetic defect of the ... Loss of the thymus at an early age through genetic mutation (as in DiGeorge syndrome, CHARGE syndrome, or a very rare "nude" ...
Immunologic pregnancy tests were introduced in 1960 when Wide and Gemzell presented a test based on in-vitro hemagglutination ... familial hCG syndrome and cancer. Urine tests can be falsely positive in those that are taking the medications: chlorpromazine ... IgA deficiencies, heterophile antibodies, enterocystoplasties, gestational trophoblastic diseases (GTD), and gestational ...
... exogenous Cushing's syndrome) Impaired memory and attention deficits See steroid dementia syndrome. Adrenal insufficiency (if ... It is essential for life, and it regulates or supports a variety of important cardiovascular, metabolic, immunologic, and ... Glucocorticoids also suppress the humoral immunity, thereby causing a humoral immune deficiency. Glucocorticoids cause B cells ... Wolkowitz OM, Lupien SJ, Bigler ED (Jun 2007). "The "steroid dementia syndrome": a possible model of human glucocorticoid ...
Maldonado M, Kapphahn RJ, Terluk MR, Heuss ND, Yuan C, Gregerson DS, Ferrington DA (2013). "Immunoproteasome deficiency ... Lastly, autoimmune disease patients with SLE, Sjögren syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating ... "Circulating proteasomes are markers of cell damage and immunologic activity in autoimmune diseases". The Journal of ...
When AML occurs, it is often preceded by a myelodysplastic syndrome phase, before developing into overt acute leukemia. ... Koseoglu V, Chiang J, Chan KW (December 1999). "Acquired pseudocholinesterase deficiency after high-dose cyclophosphamide". ... tumor-reactive effector T cells by the creation of an immunologic space niche. Thus, cyclophosphamide preconditioning of ... As an immune suppressor it is used in nephrotic syndrome, granulomatosis with polyangiitis, and following organ transplant, ...
... was identified as acquired immune deficiency syndrome, AIDS. This desire even became more urgent as she focused on infectious ... "Immunologic Challenges to HIV Vaccine Design". 2007-10-05. (Articles with short description, Short description matches Wikidata ... Journal of Acquired Immune Deficiency Syndromes. 63 (3): 263-71. doi:10.1097/QAI.0b013e3182898392. PMC 3683090. PMID 23392465. ... Their studies span a wide array of immunologic investigations in persons who experience unusual control of HIV-1 infection, ...
... hearing loss with craniofacial syndromes) Laryngotracheoesophageal anomalies Growth hormone deficiency Autoimmune disorders ... DiGeorge, A (1968). "Congenital absence of the thymus and its immunologic consequences: concurrence with congenital ... Shprintzen syndrome, DiGeorge sequence/syndrome, Sedlackova syndrome, and conotruncal anomaly face syndrome. All are now ... DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of ...
Superior vena cava syndrome Paralysis of diaphragm (phrenic nerve) Ectopic hormones Eaton-Lambert syndrome Clubbing Horner ... decreased with androgen deficiency, drugs Autonomic neuropathy: impede blood flow redirection Nitric oxide deficiency: impaired ... Raynaud's ANA Immunologic (anti-Sm, anti-dsDNA) Neuropsych Malar rash Discoid rash however, not in order of diagnostic ... Turner syndrome Achondroplasia Respiratory(suppurative lung disease) Down syndrome Hereditary Environmental (postirradiation, ...
Ambrus M, Hernádi E, Bajtai G (May 1977). "Prevalence of HLA-A1 and HLA-B8 antigens in selective IgA deficiency". Clin. Immunol ... Czaja AJ, Carpenter HA, Santrach PJ, Moore SB (January 1995). "Immunologic features and HLA associations in chronic viral ... Adrenocortical hyperfunction-Cushing's syndrome, primary biliary cirrhosis. However, as study sizes increased and D serotypes ... Ostergaard PA, Eriksen J (August 1979). "Association between HLA-A1,B8 in children with extrinsic asthma and IgA deficiency". ...
Warner came to this conclusion after analyzing human case of Hutchinson's Gilford syndrome and mouse models of accelerated ... Lig4 deficiency in the mouse causes a progressive loss of HSCs during aging. These findings suggest that NHEJ is a key ... The system theories include the immunologic approach to ageing, rate-of-living and the alterations in neuroendocrinal control ... "Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age". Nature. 447 (7145): 725-9. Bibcode ...
Maternal transmission of acquired immune deficiency syndrome. Pediat, 73:382-386, 1984. Cao Y, Krogstad P, Korber BT, Koup RA, ... In 1981, while working at UCSF in a lab that could perform the immunologic tests needed to detect immunodeficiency in AIDS ... Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity. Lancet, 1: ... "Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity". The Lancet ...
"France - Lymphoproliferative Syndrome B-Cell Prolymphocytic Leukemia ,". icgc.org. Retrieved 2016-11-18. "The Immune System". ... "The Immune System and Primary Immunodeficiency , Immune Deficiency Foundation". primaryimmune.org. Retrieved 2016-11-20. ... indicates more abundant cytoplasm This technique is used to study proteins expressed in cells using immunologic markers. In B- ... deficiency of platelets in blood). The rarity of B-PLL paired with its considerably fast progression compared to other ...
Edelman, A. S.; Zolla-Pazner, S. (1989-01-01). "AIDS: a syndrome of immune dysregulation, dysfunction, and deficiency". FASEB ... Stahl, R. E.; Friedman-Kien, A.; Dubin, R.; Marmor, M.; Zolla-Pazner, S. (1982-08-01). "Immunologic abnormalities in homosexual ... She was also responsible for the description of immunologic abnormalities in the first patients with AIDS-related Mycobacterium ... In 1981, Zolla-Pazner and other researchers initially described the immunologic abnormalities afflicting homosexual men in New ...
... the virus that leads to acquired immune deficiency syndrome (AIDS), as a result of receiving contaminated clotting factor ... Relationship with immunologic abnormalities". The Journal of Pediatrics. 108 (4): 511-516. doi:10.1016/s0022-3476(86)80824-1. ...
The very young, elderly, pregnant women, and people with immune deficiencies are more likely to develop severe symptoms.[ ... Definitive diagnosis is typically made in a laboratory by employing some combination of blood tests, particularly immunologic, ... should not be taken in cases of dengue fever as it could increase the risk of bleeding and cause Dengue Shock Syndrome. Most ...
Symptomatic patients with CTLA-4 mutations are characterized by an immune dysregulation syndrome including extensive T cell ... Liossis SN, Sfikakis PP, Tsokos GC (August 1998). "Immune cell signaling aberrations in human lupus". Immunologic Research. 18 ... Germline haploinsufficiency of CTLA-4 leads to CTLA-4 deficiency or CHAI disease (CTLA4 haploinsufficiency with autoimmune ... December 2014). "Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations". Nature Medicine. 20 (12): ...
T cells play within the immune system is evidenced by the severe autoimmune syndrome that results from a genetic deficiency in ... Sakaguchi S (2004). "Naturally arising CD4+ regulatory t cells for immunologic self-tolerance and negative control of immune ... syndrome. The IPEX syndrome is characterized by the development of overwhelming systemic autoimmunity in the first year of life ... It is important for T cells proliferation and survival, but in the case of its deficiency, IL-15 may be replaced. However, Treg ...
"Immunologic Deficiency Syndromes". 0-9. A. B. C. D. E. F. G. H. I. J. K. L. M. N. O. P. Q. R. S. T. U. V. W. X. Y. Z. * 0-9 ...
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Immunologic Deficiency Syndromes / genetics* * Male * Mice * Phenotype * Spleen / immunology Substances * Histocompatibility ... Phenotypic and genetic characterization of a unique B lymphocyte deficiency in strain A/WySnJ mice Eur J Immunol. 1991 May;21(5 ... Adult A/WySnJ mice had a severe B cell deficiency, which was apparent in the spleen, lymph nodes, peritoneum and peripheral ... was responsible for the deficiency. This maturational defect blocked the production of B220hi/Iahi/surface IgMlo B cells, and ...
Immunologic Deficiency Syndromes. Immune System Diseases. To Top. *For Patients and Families ... AEs were graded as per Division of Acquired Immunodeficiency Syndrome (DAIDS) grading. Grade 1=mild; grade 2=moderate; grade 3= ... with the exception of Gilberts syndrome or asymptomatic gallstones). ...
Categories: Immunologic Deficiency Syndromes Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
Immunologic Deficiency Syndrome , Natural History of Noncirrhotic Portal Hypertension ... Cystic Fibrosis, Immunologic Deficiency Syndrome, Turner Syndrome, Congenital Hepatic Fibrosis, Idiopathic Non-Cirrhotic Portal ... Turner s Syndrome (TS) and congenital hepatic fibrosis (CHF) to name a few. We propose to study individuals with NCPH, and ... Turner Syndrome , Idiopathic Non-Cirrhotic Portal Hypertension , ...
Immunologic Deficiency Syndromes [C20.673]. *HIV Infections [C20.673.480]. *AIDS Dementia Complex [C20.673.480.070] ... A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and ... Dementia Complex, Acquired Immune Deficiency Syndrome. *Acquired-Immune Deficiency Syndrome Dementia Complex ...
Immunologic Deficiency Syndromes, Avanços tecnológicos e suas Implicações nas Doenças Tropicais 8ª Mostra Nacional de ... Acquired Immunodeficiency Syndrome, Influenza, Human, Pneumonia, Tuberculosis, Urban Health, Urban Sanitation, Urbanization, ...
Immunologic studies showed elevated serum concentrations of IgG, IgA, and IgM, decreased numbers of T-lymphocytes, and impaired ... Epidemiologic Notes and Reports Possible Transfusion-Associated Acquired Immune Deficiency Syndrome (AIDS) -- California CDC ... Update on acquired immune deficiency syndrome (AIDS) among patients with hemophilia A. MMWR 1982;31:644-6, 652. ... Update on acquired immune deficiency syndrome (AIDS)--United States. MMWR 1982;31:507-8, 513-4. ...
Leukocyte adhesion deficiency (LAD) is most prominent among the immunodeficiency syndromes. [10, 11, 12, 13, 14, 15, 16] ... Omphalitis occasionally manifests from an underlying immunologic disorder. ... Mogica-Martinez MD, Lopez-Duran JL, Canseco-Raymundo MR, Becerril Angeles M. [Leukocyte adhesion deficiency syndrome: case ... Leukocyte adhesion deficiency disorder: report of one case. Acta Paediatr Taiwan. 1999 Mar-Apr. 40(2):128-31. [QxMD MEDLINE ...
Omenn syndrome (MIM 603554) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by ... Their defects are restricted to the T- B- immunologic abnormalities, as observed in human RAG deficiency. Recently, 2 murine ... Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome. ... Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. Pediatr Transplant. 2008 Sep 15. [ ...
Immunologic Deficiency Syndromes Immunologic Deficiency Syndromes 973 0 195 0.14. 0 0. ...
Immunologic Deficiency Syndromes [C20.673]. *Leukocyte-Adhesion Deficiency Syndrome [C20.673.600]. Below are MeSH descriptors ... "Leukocyte-Adhesion Deficiency Syndrome" by people in this website by year, and whether "Leukocyte-Adhesion Deficiency Syndrome ... "Leukocyte-Adhesion Deficiency Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, ... Below are the most recent publications written about "Leukocyte-Adhesion Deficiency Syndrome" by people in Profiles. ...
Immunologic deficiency syndromes , Acquired immunodeficiency syndrome -- nursingNLM classification: WD 308 Tags from this ...
Deficiency Syndrome, Immunologic Deficiency Syndrome, Immunological Deficiency Syndromes, Immunologic Deficiency Syndromes, ... Immunologic Deficiency Syndrome Immunological Deficiency Syndrome Immunological Deficiency Syndromes Syndrome, Immunologic ... Antibody Deficiency Syndrome. Antibody Deficiency Syndromes. Deficiency Syndrome, Antibody. Deficiency Syndrome, Immunologic. ... Deficiency Syndrome, Immunological. Deficiency Syndromes, Antibody. Deficiency Syndromes, Immunologic. Deficiency Syndromes, ...
Immunologic Deficiency Syndromes 2 0 Adrenal Hyperplasia, Congenital 2 0 Cardiovascular Diseases 2 0 ...
Immunologic Deficiency Syndromes --diagnosis. en_US. dc.subject.mesh. Infant. en_US. ... Rath S, Jain V, Marwaha RK, Trehan A, Rajesh LS, Kumar V. Griscelli syndrome. Indian Journal of Pediatrics. 2004 Feb; 71(2): ... Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to ... A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair ...
Successful Bone-Marrow Transplantation in a Lymphopenic Immunologic Deficiency Syndrome. Rubinstein, A., Speck, B. & Jeannet, M ... Successful CO2 laser ablation of true vocal fold microaneurysm in a patient with Ehlers-Danlos syndrome. Du, E. & Tan, M., Dec ...
Immunoglobulins/therapeutic use, Immunologic Deficiency Syndromes/drug therapy, Technology Assessment, Biomedical, Cost-Benefit ... Immunoglobulins/therapeutic use, Immunologic Deficiency Syndromes/drug therapy, Technology Assessment, Biomedical, Cost-Benefit ...
Syndromes, Acquired Immunodeficiency .. AIDS 17655 .. Immunodeficiency Syndrome, Acquired .. Immunologic Deficiency Syndrome, ... Acquired Immune Deficiency Syndrome .. Acquired Immuno-Deficiency Syndrome .. Acquired Immuno Deficiency Syndrome .. Acquired ... Acquired Immunodeficiency Syndromes .. Immuno-Deficiency Syndrome, Acquired .. Immuno-Deficiency Syndromes, Acquired .. ... Syndrome, Acquired Immuno-Deficiency .. Syndrome, Acquired Immunodeficiency .. Syndromes, Acquired Immuno-Deficiency .. ...
immunologic deficiency syndromes (4) * equity (3) * hematopoietic stem cell transplantation (3) * mutation (3) ... The evolution of cellular deficiency in GATA2 mutation Rachel E. Dickinson, Paul Milne, Laura Jardine, Sasan Zandi, Sabina I. ... A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) ...
Immunologic Deficiency Syndromes [1]. Incest [1]. * * Contact Us , Send Feedback Privacy policy ...
Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes igAD and CVID. ...
The potential role of vitamin E in the treatment of immunologic abnormalities during acquired immune deficiency syndrome. Prog ... Coodley, GO, Coodley, MK, Nelson, HD, Loveless, MO: Micronutrient concentrations in the HIV wasting syndrome. AIDS 1993, 7(12 ... correlation of immunologic abnormalities, clinical status, and serology to human immunodeficiency virus. J Infect Dis 1987, 155 ... Dietary micronutrient intake and risk of progression to acquired immunodeficiency syndrome (AIDS) in human immunodeficiency ...
Immunologic Deficiency Syndromes (Phase 2) Infant, Newborn, Diseases (Phase 3) Infections (Phase 4) ...
The complexity of the genetic,immunologic, and clinical features of PID has prompted the need for their classification, with ... Humans, Immune System, Immunologic Deficiency Syndromes. © 2022 Experimental Medicine Division, John Radcliffe Hospital, ... The complexity of the genetic,immunologic, and clinical features of PID has prompted the need for their classification, with ...
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  • PIDDs are roughly categorized as antibody deficiencies (B cell, T cell, or combined), phagocytic defects (eg, chronic granulomatous disease [CGD] ), and complement disorders . (arupconsult.com)
  • Antibody deficiencies are the most common type of PIDD and can be broadly characterized by the presence or absence of B cells. (arupconsult.com)
  • At the Clinical Center of the NIH, various cohorts of patients have been identified to be at increased risk for the development of noncirrhotic portal hypertensive liver diseases such as those with Cystic Fibrosis (CF), common variable immunodeficiency (CVID), Turner s Syndrome (TS) and congenital hepatic fibrosis (CHF) to name a few. (centerwatch.com)
  • There were 8 patients with agammaglobulinaemia (X linked agammaglobulinaemia and autosomal recessive agammaglobulinaemia), 2 patients each with ataxia telangiectasia , IgA deficiency and hyper-IgE syndrome , 3 patients with common variable immune deficiency (CVID), and 1 patient each with Griscelli syndrome , hyper-IgM syndrome and X linked severe combined immune deficiency (SCID). (bvsalud.org)
  • however, the most common clinically significant PIDD, common variable immune deficiency (CVID) , has a peak onset in the second and third decades of life. (arupconsult.com)
  • Besides the high risk of blood-borne infections associated with multiple transfusions, the increased susceptibility of these patients to infectious diseases has been attributed to a coexistent immune deficiency. (medscitechnol.com)
  • In some persons, the symptoms of CFS develop following an otherwise self-limited illness, such as influenza, infectious mononucleosis, acute cytomegalovirus (cy-to-meg-lo-virus) infections, or a nonspecific acute viral syndrome. (cdc.gov)
  • Treatment Although primary complement deficiencies have no known cure, the associated infections, collagen vascular disease, and renal disease require prompt treatment . (symptoma.com)
  • Deficiencies of the components of the MAC (C5-C9) tend to lead to less severe infections and have a better prognosis with careful management. (symptoma.com)
  • Primary immune deficiency among patients with recurrent infections. (bvsalud.org)
  • We investigated patients who presented during the years 2005-7 with recurrent or persistent infections or infections with opportunistic organisms, for underlying immune deficiency . (bvsalud.org)
  • STUDY POPULATION 257 patients referred to the Department of Immunology , Medical Research Institute, Colombo, with a history of recurrent infections , for evaluation of possible immune deficiency . (bvsalud.org)
  • Primary immune deficiency must be included in the evaluation of patients with recurrent infections , and timely intervention can prevent morbidity and mortality . (bvsalud.org)
  • Since the clinical earliest descriptions of patients with acquired immune deficiency syndrome (AIDS) it has been very clear that a profound state of immunologic dysfunction was the underlying cause of the emergence of life-threatening opportunistic infections and tumors. (elsevier.com)
  • Individuals with X-linked hyper IgM syndrome begin to develop frequent infections in infancy and early childhood. (medlineplus.gov)
  • People with X-linked hyper IgM syndrome are prone to infections because they do not have a properly functioning immune system. (medlineplus.gov)
  • Griscelli syndrome is a rare genetic immunodeficiency disorder characterized by pigment dilution, recurrent cutaneous and pulmonary infections, neurological deterioration, hypogammaglobulinemia, and defective cell-mediated immunity. (cdlib.org)
  • YNS is more frequently isolated but may be associated in rare cases with autoimmune diseases, other clinical manifestations implicating lymphatic functions or cancer and, hence, is also considered a paraneoplastic syndrome. (biomedcentral.com)
  • In this review, we analyze the available literature on this subject, describing clinical characteristics, explorations, associated diseases and management of this rare syndrome. (biomedcentral.com)
  • It is a syndrome - not a disease - that is associated with conditions as different as diseases implicating the lymphatic system, autoimmune diseases or cancers. (biomedcentral.com)
  • The articles published in Journal of Advances In Allergy & Immunologic Diseases(JAAID) have been cited [45] times by eminent researchers all around the world. (siftdesk.org)
  • Following is the list of articles that have cited the articles published in Journal of Advances In Allergy & Immunologic Diseases(JAAID): Open Access . (siftdesk.org)
  • The disorders include attention-deficit/hyperactivity disorder, oppositional defiant disorder, nonspecific disruptive disorder, autism spectrum disorders, and stereotypical movement disorder in prepubertal children with Down syndrome and depressive illness, obsessive-compulsive disorder, and psychosislike disorder in adolescents and adults with Down syndrome. (medscape.com)
  • Prognosis Since complement deficiencies include a wide range of disorders, the prognoses can also vary widely. (symptoma.com)
  • Immunologic disorders (e.g. (jcda.ca)
  • The differential diagnosis of GS includes disorders of pigment dilution such as Chediak-Higashi syndrome, Elejalde syndrome, and Hermansky-Pudlak syndrome as well as disorders of neutrophilic function such as chronic granulomatous disease of childhood (CGC), myeloperoxidase deficiency, hyper-IgE syndrome and Wiskott-Aldrich syndrome. (cdlib.org)
  • although this may be an underestimate due to clinical misdiagnosis with other disorders such as Kabuki syndrome and Rubinstein-Taybi syndrome as well as a subgroup of patients that have only slight or even no apparent developmental delay and therefore often do not undergo genetic evaluation. (orpha.net)
  • Thyroid disorders have also been implicated in chronic fatigue syndrome. (raviana.com)
  • Anemic disorders associated with orofacial signs and symptoms include iron deficiency anemia, Plummer-Vinson syndrome, megaloblastic anemia, sickle cell anemia, thalassaemia and aplastic anemia. (ijdr.in)
  • The complexity of the genetic,immunologic, and clinical features of PID has prompted the need for their classification, with the ultimate goal of facilitating diagnosis and treatment. (ox.ac.uk)
  • Among the three clinical YNS characteristics (yellow nail syndrome, respiratory tract involvement, lymphedema), only two are required to diagnose YNS but it is difficult to call the entity YNS without nail abnormality [ 4 ]. (biomedcentral.com)
  • Individuals with genetically determined complement deficiencies have a variety of clinical presentations . (symptoma.com)
  • On the basis of clinical features, pigment clumping in the hair shaft, and the absence of neutrophilic inclusions on blood smears, the patient was diagnosed with Griscelli syndrome. (cdlib.org)
  • Wiedemann-Steiner syndrome (WSS) has a variable clinical phenotype presenting rarely in the prenatal period and more commonly neonatally or in infancy or childhood. (orpha.net)
  • Effect of baseline CD4 cell counts on the clinical significance of short-term immunologic response to antiretroviral therapy in individuals with virologic suppression. (yale.edu)
  • [ 37 , 46 , 48 ] ADEM bears a striking clinical and pathological resemblance to other acute demyelinating syndromes (ADS) of childhood, including multiple sclerosis (MS). ADEM in children is readily distinguishable from alternative diagnoses on the basis of clinical features and findings on neuroimaging and laboratory investigations. (medscape.com)
  • This study identifies a novel immunodeficiency with phenotypic similarities to STAT3 hyper-IgE syndrome caused by loss of function of GP130. (ox.ac.uk)
  • This occurred after multiple transfusions, including a transfusion of platelets derived from the blood of a male subsequently found to have the acquired immune deficiency syndrome (AIDS). (cdc.gov)
  • Although he improved on antimicrobial therapy and was discharged after a 1-month hospitalization, immunologic studies done in March 1982 showed severe cellular immune dysfunction typical of AIDS. (cdc.gov)
  • Pathogenetic aspects of immune deficiency associated with ß thalassemia. (medscitechnol.com)
  • CFS is not associated with the acquired immune deficiency syndrome (AIDS), although AIDS may cause symptoms resembling CFS. (cdc.gov)
  • Primary immune deficiency is relatively rare. (bvsalud.org)
  • X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. (medlineplus.gov)
  • Growth hormone deficiency and immune deficiency (hypogammaglobulinemia) have been reported in some patients. (orpha.net)
  • Journal of acquired immune deficiency syndromes (1999) 52, no. 3 (2009): 357-63. (yale.edu)
  • Referència: Jaids-Journal Of Acquired Immune Deficiency Syndromes 2007. (clinicbarcelona.org)
  • Recently, the phenomenon of immune reconstitution inflammatory syndrome (IRIS), or leprosy reversal response, has received attention. (cdc.gov)
  • An uncommon but potential y lized to act as an alkylating agent, Infection with HIV-1 is the cause of dangerous side effect of immuno- causes acute myeloid leukaemia and the acquired immune deficiency syn- suppression to support organ trans- carcinoma of the urinary bladder in drome (AIDS). (who.int)
  • The severe immune plants is that suppression of the patients in whom it has been used deficiency that is characteristic of immune response can allow occult as an antineoplastic agent ( IARC, AIDS results from a deficiency in tumours or metastatic tumour cel s 2012b ). (who.int)
  • Accordingly, Omenn syndrome is best viewed, not as a specific form of SCID, but rather as an aberrant inflammatory condition that can be associated with multiple genetic abnormalities, which can significantly impair (but not abolish) T-cell development in the thymus. (medscape.com)
  • A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. (orpha.net)
  • The authors suggest three main theories to explain the development of the syndrome: genetic predisposition, silicone bleeding and the formation of a periprosthetic capsule. (bvsalud.org)
  • Griscelli syndrome: A new phenotype with circumscribed pigment loss? (cdlib.org)
  • A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. (who.int)
  • Chronic Fatigue Syndrome, or CFS, comprises a complex of symptoms characterized by chronic, debilitating fatigue and other nonspecific symptoms. (cdc.gov)
  • Cross-Sectional Study of Respiratory Symptoms, Spirometry, and Immunologic Sensitivity in Epoxy Resin Workers. (ucdenver.edu)
  • They may also have symptoms that suggest autoimmune disease and complement deficiency may be an etiologic factor in the development of autoimmune disease. (symptoma.com)
  • Consequently, the disease's signs and symptoms onset is postponed and the reduction rate of the immunologic system's protection cells is diminished 1 . (bvsalud.org)
  • Omenn syndrome (MIM 603554) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive , lymphadenopathy , and hepatosplenomegaly (see the image below). (medscape.com)
  • Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. (rush.edu)
  • Causes Primary complement deficiencies are inherited as autosomal recessive traits, except for deficiency of C1 esterase inhibitor, which is autosomal dominant. (symptoma.com)
  • Griscelli syndrome (GS) is a disorder of defective neutrophilic function with autosomal recessive inheritance [ 1 ]. (cdlib.org)
  • Most children with Down syndrome do not have a coexisting psychiatric or behavioral disorder. (medscape.com)
  • Omphalitis occasionally manifests from an underlying immunologic disorder. (medscape.com)
  • Iron deficiency anemia is the most common hematological disorder. (ijdr.in)
  • This systematic review concludes that, to date, there is not enough scientific evidence to establish the causality of the development of adjuvant-induced autoimmune syndrome resulting from silicone breast implants. (bvsalud.org)
  • A novel homozygous frameshift mutation in IL7R (c.562delC) was indentified in the proband with both parents being Taiwanese aborigines who were delineated as carriers, none of whom had Omenn syndrome. (medscape.com)
  • Adult A/WySnJ mice had a severe B cell deficiency, which was apparent in the spleen, lymph nodes, peritoneum and peripheral blood, compared to adult A/J mice. (nih.gov)
  • Several subtle immunologic abnormalities have been described in some patients with CFS, although various studies have generated conflicting results. (cdc.gov)
  • IMSEAR at SEARO: Griscelli syndrome. (who.int)
  • The findings in skin and hair biopsies in Griscelli syndrome are distinctive. (who.int)
  • Griscelli syndrome. (who.int)
  • Mutations of three distinct genes have been described in Griscelli syndrome with different phenotypes. (cdlib.org)
  • We report a 20-year-old female with Griscelli syndrome with circumscribed pigment loss over thighs and abdomen in addition to diffuse pigment dilution. (cdlib.org)
  • Another factor thought to be involved in chronic fatigue syndrome is immunologic dysfunction, such as the inappropriate production of inflammatory cytokines. (raviana.com)
  • Here we demonstrate that mammalian SWItch/Sucrose Non-Fermentable (mSWI/SNF) chromatin remodeling complexes, specifically canonical BRG1/BRM-associated factor (cBAF) complexes, promote severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and represent host-directed therapeutic targets. (bvsalud.org)
  • The chronic infection hypothesis for novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variant emergence is increasingly gaining credence following the appearance of Omicron. (bvsalud.org)
  • The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic has highlighted the need for vaccines that not only prevent disease but also prevent transmission. (bvsalud.org)
  • Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection is mediated by the entry receptor angiotensin-converting enzyme 2 (ACE2). (bvsalud.org)
  • In this syndrome, the SCID is associated with the virtual absence of B cells and the presence of oligoclonal autoreactive T cells. (medscape.com)
  • The mutations in RAG-1 and RAG-2 in Omenn syndrome differ from T-cell negative (T - ), B-cell negative (B - ), and natural killer cell positive (NKC + ) SCID caused by RAG-1 or RAG-2 mutations. (medscape.com)
  • Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. (who.int)
  • The differential diagnosis includes Kabuki syndrome, Coffin-Siris syndrome, Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, and non-syndromic intellectual disability. (orpha.net)
  • A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. (umassmed.edu)
  • The immunologic workup of the child suspected of immunodeficiency. (symptoma.com)
  • Acquired immunodeficiency syndrome (AIDS) is a contagious lethal disease caused by the human immunodeficiency virus (HIV) whose action is to destroy the lymphocytes, the cells responsible for the body's defense. (bvsalud.org)
  • Estos elementos reflejan los criterios de SIDA definidos por los CDC (Centers for Disease Control and Prevention) en 1993. (bvsalud.org)
  • The literature search of the PubMed database used the words "yellow nail syndrome" for articles written in English or French. (biomedcentral.com)
  • In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis , with higher death rates and frequent progression to end-stage renal disease. (symptoma.com)
  • An ontogeny study revealed that a developmental defect, inhibiting B lymphocyte maturation or differentiation but not B lymphopoiesis, was responsible for the deficiency. (nih.gov)
  • Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. (bvsalud.org)
  • World Health Organization (WHO) estimates that the prevalence ratio of deficiency in the world would be 1:10 subjects. (bvsalud.org)
  • Thus, Omenn syndrome is a distinct inflammatory process that can be associated with genetically diverse, leaky SCIDS. (medscape.com)
  • Chronic fatigue syndrome (CFS or ME/CFS) is much more than just being tired a lot. (raviana.com)
  • Chronic fatigue syndrome is a complex illness affecting the brain and multiple body systems. (raviana.com)
  • Chronic fatigue syndrome is more common in women than men, and the majority of people affected are in their thirties. (raviana.com)
  • The cause of chronic fatigue syndrome is unknown and there are no specific lab tests to diagnose this condition. (raviana.com)
  • Chronic infection with viruses, such as Epstein-Barr virus, human herpes virus 6, and cytomegalovirus, may contribute to the development of chronic fatigue syndrome in some people. (raviana.com)
  • Some studies have found that people with chronic fatigue syndrome have lower levels of the hormone cortisol, which is secreted by the adrenal glands. (raviana.com)
  • Leukocyte-Adhesion Deficiency Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)
  • Lymphedema, a characteristic of Omenn syndrome, is also shown. (medscape.com)
  • Síndromes en los que hay déficit o defecto en los mecanismos de la inmunidad, tanto celular como humoral. (bvsalud.org)
  • INTRODUCCIÓN: Las inmunodeficiencias primarias conforman un grupo de distintas patologías, que comprometen entre otras la inmunidad humoral o celular, resultando en un aumento de la susceptibilidad a infecciones. (bvsalud.org)
  • The severity of X-linked hyper IgM syndrome varies among affected individuals, even among members of the same family. (medlineplus.gov)
  • Below are the most recent publications written about "Leukocyte-Adhesion Deficiency Syndrome" by people in Profiles. (rush.edu)
  • Omenn syndrome has been identified in leaky SCIDs caused by hypomorphic mutations in recombinase genes RAG-1 and RAG-2 , which impair but do not eliminate recombination of variable, diversity, and joining (VDJ) segments of TCR and Ig genes. (medscape.com)
  • Most cases of Omenn syndrome reported so far are associated with hypomorphic mutations in RAG-1/RAG-2 genes. (medscape.com)