• The ICF syndrome (immunodeficiency, (para)centromeric instability and facial abnormalities) is a rare autosomal recessive disorder with characteristic cytogenetic aberrations of chromosomes 1, 9 and 16 in lymphocytes. (lookfordiagnosis.com)
  • 4beta-hydroxycholesterol is associated with abnormalities such as Kidney Failure, Kidney Failure, Chronic, Respiratory Tract Infections, Immunologic Deficiency Syndromes and Infection. (cmdm.tw)
  • Several subtle immunologic abnormalities have been described in some patients with CFS, although various studies have generated conflicting results. (cdc.gov)
  • A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. (uams.edu)
  • Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation. (lu.se)
  • Baseline immunologic abnormalities were identified in 16 hospitalized intravenous drug abusers (IDAs) without acquired immune deficiency syndrome (AIDS). (elsevierpure.com)
  • Phagocytic system - include neutro;hils and macrophages, Deficiencies typically present with pyogenic infections. (uchicago.edu)
  • Coplement deficiencies may present with autoimmunity and recurrent neiserrial infections. (uchicago.edu)
  • B-cell or humoral immunity - deficiencies result in recurrent infections usually with encapsulated organisims or failure to respond to antibiotics. (uchicago.edu)
  • Research of Aids-related Opportunistic Infections has been linked to Hiv Infections, Acquired Immunodeficiency Syndrome, Immunologic Deficiency Syndromes, Infective Disorder, Tuberculosis. (novusbio.com)
  • Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS). (ucdenver.edu)
  • 4beta-Hydroxycholesterol is suspected in Kidney Failure, Chronic, Kidney Failure, Respiratory Tract Infections, Immunologic Deficiency Syndromes, Infection, Epilepsy and other diseases in descending order of the highest number of associated sentences. (cmdm.tw)
  • 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)
  • Patients with Bloom syndrome demonstrate recurrent respiratory and gastrointestinal tract infections. (medscape.com)
  • Patients with Bloom syndrome are predisposed to respiratory and gastrointestinal infections as a result of a deficiency of immunoglobulin A. (medscape.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)
  • The ratio of mean daily IgG increment/mean daily dose in immunoglobulin replacement therapy in primary antibody deficiencies. (ox.ac.uk)
  • People with X-linked hyper IgM syndrome have low levels of three other classes of antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E (IgE). (medlineplus.gov)
  • Many primary immunodeficiencies follow simple mendelian inheritnce and are due to single gene defects, e.g. chronic granulomatous disease, and Wiskott Aldrich Syndrome. (uchicago.edu)
  • Chronic Fatigue Syndrome, or CFS, comprises a complex of symptoms characterized by chronic, debilitating fatigue and other nonspecific symptoms. (cdc.gov)
  • Chronic lung disease is the second leading cause of death in Bloom syndrome patients. (medscape.com)
  • Chediak-Higashi Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (musc.edu)
  • This graph shows the total number of publications written about "Chediak-Higashi Syndrome" by people in this website by year, and whether "Chediak-Higashi Syndrome" was a major or minor topic of these publications. (musc.edu)
  • Below are the most recent publications written about "Chediak-Higashi Syndrome" by people in Profiles. (musc.edu)
  • Growth delay is the most impressive clinical feature of Bloom syndrome (congenital telangiectatic erythema) and is usually the first manifestation that causes the parents to seek medical attention. (medscape.com)
  • Physical examination findings in Bloom syndrome (congenital telangiectatic erythema) vary and involve stunted growth, cutaneous manifestations, ocular manifestations, musculoskeletal manifestations, fertility concerns, immunologic manifestations, and a predisposition to malignancies, among others. (medscape.com)
  • Skin findings in Bloom syndrome include telangiectatic erythema, which is usually not congenital, appearing on average at age 8 years. (medscape.com)
  • Bloom syndrome (congenital telangiectatic erythema) is genetic with an autosomal recessive pattern of inheritance. (medscape.com)
  • Deficiency of the mannose-binding lectin (MBL) protein, an antigen-recognition molecule involved in systemic and mucosal innate immunity, is determined by variant alleles in MBL2 gene promoter and exon-1 regions. (elsevierpure.com)
  • Vitamin D deficiency has also been observed in patients with systemic lupus erythematosus (SLE). (bvsalud.org)
  • Vitamin D deficiency has also been observed in systemic sclerosis. (bvsalud.org)
  • Vitamin D deficiency has also been found in patients with systemic lupus erythematosus (SLE) and it was shown to be related to disease activity and renal involvement. (bvsalud.org)
  • Sjögren's syndrome is a systemic autoimmune disease affecting the exocrine glands, known as an autoimmune epithelitis. (bvsalud.org)
  • Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. (lu.se)
  • 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)
  • Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report. (lu.se)
  • A few case reports have described an infantile form of this syndrome associated with a poor prognosis. (medscape.com)
  • The ambiguous definition of burning mouth syndrome (BMS) makes evaluation of prognosis and treatment difficult. (medscape.com)
  • CFS is not associated with the acquired immune deficiency syndrome (AIDS), although AIDS may cause symptoms resembling CFS. (cdc.gov)
  • Immunologic Deficiency Syndromes" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (wakehealth.edu)
  • Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome. (lu.se)
  • Activated PI3-kinase delta syndrome (APDS) was recently reported as a novel primary immunodeficiency caused by heterozygous gain-of-function mutations in PIK3CD gene. (torvergata.it)
  • X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. (medlineplus.gov)
  • We later found out that it's actually the virus itself that causes immune deficiency by gumming up the works of binding to CD4 cells and not letting the immune system talk to itself. (medscape.com)
  • The growth deficiency has a prenatal onset, apparent from term birth measurements, and persists throughout life. (medscape.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)
  • Type 1 burning mouth syndrome (BMS): Patients have no symptoms upon waking, with progression throughout the day. (medscape.com)
  • Type 2 burning mouth syndrome (BMS): Patients have continuous symptoms throughout the day and are frequently asymptomatic at night. (medscape.com)
  • Type 3 burning mouth syndrome (BMS): Patients have intermittent symptoms throughout the day and symptom-free days. (medscape.com)
  • N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains. (lu.se)
  • Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. (wakehealth.edu)
  • Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. (lu.se)
  • Cytogenetic findings in a Bloom syndrome patient with acute myeloid leukemia of the French-American-British subtype M1 showed preferential occurrence of total or partial loss of chromosome 7. (medscape.com)
  • I think the one place where we jump into treatment as fast as we can is in somebody with acute seroconversion syndrome . (medscape.com)
  • Nutritional deficiency and diabetes may produce a similar pattern. (medscape.com)
  • Clarridge K, Leitenberg D, Loechelt B, Picard C, Keller M. Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent. (ctsicn.org)
  • Omenn syndrome with mutation in RAG1 gene. (lu.se)
  • The aim is to measure serum vitamin D levels in consecutive patients with primary Sjögren's syndrome and investigate the relationship between vitamin D levels and the presence of immunologic markers, clinical, serological, and histopathological characteristics. (bvsalud.org)
  • CONCLUSION: The silvery-greyish hair associated with fever , pancytopenia and hypertriglyceridaemia is the clue to early diagnosis of Griscelli syndrome and important to prevent death before stem cell transplantation. (lookfordiagnosis.com)
  • However, a Japanese survey that included 200 patients provided the most comprehensive characterization of this unique syndrome. (medscape.com)
  • Bloom syndrome patients develop a characteristic facies, resulting from small mandibles, hypoplasia of the malar area, dolichocephaly (long head), and prominent nose. (medscape.com)
  • Vitamin D deficiency has been observed in patients with rheumatoid arthritis (RA) and has been shown to be inversely related to disease activity. (bvsalud.org)
  • Vitamin D levels have been measured in patients with Sjögren's syndrome and an association was observed between low vitamin D levels, peripheral neuropathy and the presence of lymphoma. (bvsalud.org)
  • In other cohorts, such as a Turkish cohort, vitamin D deficiency was observed in patients with Sjögren's syndrome. (bvsalud.org)
  • The incidence of primary deficiency syndromes is 1/10000 and is greater in boys than girls. (uchicago.edu)
  • In a classification by etiology or cause, idiopathic burning mouth syndrome (BMS) is considered "primary BMS" (or "true BMS"), whereas "secondary BMS" has an identifiable cause. (medscape.com)
  • Burning mouth syndrome (BMS) is a clinical diagnosis made via the exclusion of all other causes. (medscape.com)
  • Cronkhite-Canada syndrome (CCS) is a rare nonfamilial syndrome characterized by marked epithelial disturbances in the GI tract and epidermis that was first described in 1955. (medscape.com)
  • Classically, burning mouth syndrome (BMS) is accompanied by gustatory disturbances (dysgeusia, parageusia) and subjective xerostomia. (medscape.com)
  • Burning mouth syndrome (BMS) is likely more than one disease process, and the etiology may be multifactorial. (medscape.com)
  • This graph shows the total number of publications written about "Immunologic Deficiency Syndromes" by people in this website by year, and whether "Immunologic Deficiency Syndromes" was a major or minor topic of these publications. (wakehealth.edu)
  • Below are the most recent publications written about "Immunologic Deficiency Syndromes" by people in Profiles. (wakehealth.edu)