Common Variable Immunodeficiency: Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.Agammaglobulinemia: An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.IgA Deficiency: A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A.IgG Deficiency: A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G.Immunologic Deficiency Syndromes: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.Immunoglobulins, Intravenous: Immunoglobulin preparations used in intravenous infusion, containing primarily IMMUNOGLOBULIN G. They are used to treat a variety of diseases associated with decreased or abnormal immunoglobulin levels including pediatric AIDS; primary HYPERGAMMAGLOBULINEMIA; SCID; CYTOMEGALOVIRUS infections in transplant recipients, LYMPHOCYTIC LEUKEMIA, CHRONIC; Kawasaki syndrome, infection in neonates, and IDIOPATHIC THROMBOCYTOPENIC PURPURA.Dysgammaglobulinemia: An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.Transmembrane Activator and CAML Interactor Protein: A tumor necrosis factor receptor superfamily member found expressed on peripheral B-LYMPHOCYTES. It has specificity for B-CELL MATURATION ANTIGEN and TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY MEMBER 13.Bronchiectasis: Persistent abnormal dilatation of the bronchi.B-Lymphocytes: Lymphoid cells concerned with humoral immunity. They are short-lived cells resembling bursa-derived lymphocytes of birds in their production of immunoglobulin upon appropriate stimulation.Immunoglobulins: Multi-subunit proteins which function in IMMUNITY. They are produced by B LYMPHOCYTES from the IMMUNOGLOBULIN GENES. They are comprised of two heavy (IMMUNOGLOBULIN HEAVY CHAINS) and two light chains (IMMUNOGLOBULIN LIGHT CHAINS) with additional ancillary polypeptide chains depending on their isoforms. The variety of isoforms include monomeric or polymeric forms, and transmembrane forms (B-CELL ANTIGEN RECEPTORS) or secreted forms (ANTIBODIES). They are divided by the amino acid sequence of their heavy chains into five classes (IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M) and various subclasses.B-Lymphocyte Subsets: A classification of B-lymphocytes based on structurally or functionally different populations of cells.Splenomegaly: Enlargement of the spleen.Aortic Arch Syndromes: Conditions resulting from abnormalities in the arteries branching from the ASCENDING AORTA, the curved portion of the aorta. These syndromes are results of occlusion or abnormal blood flow to the head-neck or arm region leading to neurological defects and weakness in an arm. These syndromes are associated with vascular malformations; ATHEROSCLEROSIS; TRAUMA; and blood clots.Immunoglobulin M: A class of immunoglobulin bearing mu chains (IMMUNOGLOBULIN MU-CHAINS). IgM can fix COMPLEMENT. The name comes from its high molecular weight and originally being called a macroglobulin.Pseudolymphoma: A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)T-Lymphocytopenia, Idiopathic CD4-Positive: Reproducible depletion of CD4+ lymphocytes below 300 per cubic millimeter in the absence of HIV infection or other known causes of immunodeficiency. This is a rare, heterogeneous syndrome and does not appear to be caused by a transmissible agent.Lymphocyte Activation: 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.Complement C4a: The smaller fragment formed when complement C4 is cleaved by COMPLEMENT C1S. It is an anaphylatoxin that causes symptoms of immediate hypersensitivity (HYPERSENSITIVITY, IMMEDIATE) but its activity is weaker than that of COMPLEMENT C3A or COMPLEMENT C5A.Immunoglobulin Class Switching: Gene rearrangement of the B-lymphocyte which results in a substitution in the type of heavy-chain constant region that is expressed. This allows the effector response to change while the antigen binding specificity (variable region) remains the same. The majority of class switching occurs by a DNA recombination event but it also can take place at the level of RNA processing.Granuloma: A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents.Immunoglobulin G: The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of IgG, for example, IgG1, IgG2A, and IgG2B.Tumor Necrosis Factor Ligand Superfamily Member 13: A member of tumor necrosis factor superfamily found on MACROPHAGES; DENDRITIC CELLS and T-LYMPHOCYTES. It occurs as transmembrane protein that can be cleaved to release a secreted form that specifically binds to TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR PROTEIN; and B CELL MATURATION ANTIGEN.T-Lymphocytes: 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.Immunophenotyping: Process of classifying cells of the immune system based on structural and functional differences. The process is commonly used to analyze and sort T-lymphocytes into subsets based on CD antigens by the technique of flow cytometry.Immunoglobulin A: Represents 15-20% of the human serum immunoglobulins, mostly as the 4-chain polymer in humans or dimer in other mammals. Secretory IgA (IMMUNOGLOBULIN A, SECRETORY) is the main immunoglobulin in secretions.Opportunistic Infections: An infection caused by an organism which becomes pathogenic under certain conditions, e.g., during immunosuppression.HIV-1: The type species of LENTIVIRUS and the etiologic agent of AIDS. It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.Antigens, CD27: A member of the tumor necrosis factor receptor superfamily found on most T-LYMPHOCYTES. Activation of the receptor by CD70 ANTIGEN results in the increased proliferation of CD4-POSITIVE T-LYMPHOCYTES and CD8-POSITIVE T-LYMPHOCYTES. Signaling by the activated receptor occurs through its association with TNF RECEPTOR-ASSOCIATED FACTORS.Immunologic Memory: The altered state of immunologic responsiveness resulting from initial contact with antigen, which enables the individual to produce antibodies more rapidly and in greater quantity in response to secondary antigenic stimulus.Cardiovascular Abnormalities: Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.Interleukin-2: A soluble substance elaborated by antigen- or mitogen-stimulated T-LYMPHOCYTES which induces DNA synthesis in naive lymphocytes.Lymphocyte Count: The number of LYMPHOCYTES per unit volume of BLOOD.Anemia, Hemolytic, Autoimmune: Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.Lung Diseases, Interstitial: A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.Acquired Immunodeficiency Syndrome: 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.Simian immunodeficiency virus: 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.CD4-CD8 Ratio: Ratio of T-LYMPHOCYTES that express the CD4 ANTIGEN to those that express the CD8 ANTIGEN. This value is commonly assessed in the diagnosis and staging of diseases affecting the IMMUNE SYSTEM including HIV INFECTIONS.Autoimmunity: Process whereby the immune system reacts against the body's own tissues. Autoimmunity may produce or be caused by AUTOIMMUNE DISEASES.Splenectomy: Surgical procedure involving either partial or entire removal of the spleen.CD4-Positive T-Lymphocytes: A critical subpopulation of T-lymphocytes involved in the induction of most immunological functions. The HIV virus has selective tropism for the T4 cell which expresses the CD4 phenotypic marker, a receptor for HIV. In fact, the key element in the profound immunosuppression seen in HIV infection is the depletion of this subset of T-lymphocytes.Infection: Invasion of the host organism by microorganisms that can cause pathological conditions or diseases.Antibody Formation: The production of ANTIBODIES by proliferating and differentiated B-LYMPHOCYTES under stimulation by ANTIGENS.Antigens, CD: Differentiation antigens residing on mammalian leukocytes. CD stands for cluster of differentiation, which refers to groups of monoclonal antibodies that show similar reactivity with certain subpopulations of antigens of a particular lineage or differentiation stage. The subpopulations of antigens are also known by the same CD designation.T-Lymphocyte Subsets: A classification of T-lymphocytes, especially into helper/inducer, suppressor/effector, and cytotoxic subsets, based on structurally or functionally different populations of cells.Flow Cytometry: Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.Respiratory Tract Infections: Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases.Lymphoproliferative Disorders: Disorders characterized by proliferation of lymphoid tissue, general or unspecified.Lymphocyte Subsets: A classification of lymphocytes based on structurally or functionally different populations of cells.HIV Infections: Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS).

In vivo modulation of cytokine synthesis by intravenous immunoglobulin. (1/340)

We examined the effects of intravenous immunoglobulin (IVIG) on cytokine regulation in vivo using samples taken before and after replacement-dose (200-400 mg/kg) IVIG in a group of patients with common variable immunodeficiency (CVID) and X-linked agammaglobulinaemia (XLA). The intracellular cytokine content of CD4+ and CD8+ lymphocytes, and their CD28+/- subsets, were measured following in vitro activation with phorbol myristate acetate (PMA) and ionomycin. The cytokines IL-2, interferon-gamma (IFN-gamma) and tumour necrosis factor-alpha (TNF-alpha), and the early activation marker CD69, were assessed by four-colour flow cytometry of whole blood cultures taken before and after IVIG infusion. There was a significant increase in IL-2 expression in CD4+ (and CD4+28-) cells and an increase in TNF-alpha expression in CD8+28- cells following IVIG in CVID, but not in XLA patients. IFN-gamma and CD69 expression were not affected by IVIG infusion. This increase in TNF-alpha and IL-2, combined with unchanged IFN-gamma expression, is evidence against the putative 'anti-inflammatory' role of IVIG, and may explain the failure of resolution of granulomata in CVID patients treated with IVIG alone.  (+info)

HLA class II homozygosity confers susceptibility to common variable immunodeficiency (CVID). (2/340)

Most cases of CVID occur sporadically, but familial cases do also occur and 15% of the patients with the disease have first degree relatives with IgA deficiency (IgAD). Our purpose was to study CVID association with HLA class II alleles and to ascertain whether this disease shares a common genetic background with IgAD in our population. Patients with CVID (n = 42), were typed using gene amplification and sequence-specific oligonucleotide probing for HLA-DRB1, DRB3, DQA1 and DQB1 loci and their typing compared with that of 96 IgAD and 334 healthy controls. We observed a positive association between non-Asp residues at position 57 of the HLA-DQbeta chain and CVID, although much weaker than in IgAD. Further, we found an association between CVID and homozygosity for genes encoding HLA class II molecules, especially HLA-DQ, not seen in IgAD. The data support the hypothesis that a restricted diversity of HLA class II molecules may contribute to susceptibility to CVID.  (+info)

Gastric pathology in patients with common variable immunodeficiency. (3/340)

BACKGROUND/AIMS: Common variable immunodeficiency (CVID) is an immunological disorder characterised by defective antibody production. Patients with CVID have a high risk of gastric cancer. It has been suggested that gastric cancer results from an interaction between environmental factors and a genetic predisposition. The role of Helicobacter pylori as an environmental factor in gastric carcinogenesis is of current interest. Moreover, p53 gene mutations have been reported in gastric cancer. This study focuses on the gastric pathology of patients with CVID and correlation with H pylori infection. METHODS: Thirty four consecutive dyspeptic patients with CVID (mean age 49.6 years, range 14-72; 17 men) were included in the study. An upper gastrointestinal endoscopy was performed and biopsy specimens were taken from the antrum, incisura angularis, and gastric body. Biopsies were used for histological assessment, to identify the presence of H pylori, and to evaluate p53 overexpression. RESULTS: H pylori infection was detected in 14/34 (41%) patients. Chronic active gastritis involving both antrum and body was observed more frequently in H pylori positive (79%) than H pylori negative (20%) patients (p = 0.001). Similarly, a histological feature of multifocal atrophic gastritis was found more frequently in infected (50%) than uninfected patients (10%) (p = 0.012). In addition, one case of gastric adenocarcinoma and another of notable dysplasia were observed in the H pylori positive group. Overexpression of p53 was found in six (18%) patients, including one with normal gastric mucosa. CONCLUSIONS: It can be hypothesised that both H pylori and p53 alterations play a role in the gastric carcinogenesis of patients with CVID.  (+info)

Effect of IVIG on the hair regrowth in a common variable immune deficiency patient with alopecia universalis. (4/340)

Common variable immune deficiency (CVID) is associated with a variety of autoimmune diseases. Alopecia universalis (AU), believed to have an autoimmune basis, has been found in 1.6% of patients with CVID. Intravenous immunoglobulin (IVIG) therapy is used in various immunodeficiency disorders including CVID, and benefit has been shown in the therapy of autoimmune diseases. We report a patient with CVID and AU treated with IVIG who experienced significant hair regrowth. An 8-year-old girl with CVID and AU was treated with IVIG 400 mg/kg every 4 weeks. Since her second dose of IVIG, regrowth of eyelashes, eyebrows, body and scalp hair was observed in this patient. At present, about 1 year treat-meant of IVIG, significant hair regrowth is noted with 5-6 cm of scalp hair. We believe that IVIG may be beneficial in the treatment of AU, at least in patients with CVID.  (+info)

Identification of a subset of common variable immunodeficiency patients with impaired B-cell protein tyrosine phosphorylation. (5/340)

The mechanisms responsible for common variable immunodeficiency syndrome (CVID) are as yet unknown. In the present study, we show that the B-cell dysfunction in a subset of CVID patients is caused by defective protein tyrosine phosphorylation (PTP). We demonstrated that the PTP level and immunoglobulin (Ig) secretion malfunctions can be successfully repaired when normal plasma membrane components are implanted into these patients' B cells. Stimulation of CVID patients' peripheral blood mononucleated cells with anti-Ig antibody revealed that 7 of 11 patients had lower PTP levels than those found in the normal donor cells. Plasma membrane implantation to the cells of these patients resulted in elevated PTP levels which reached normal levels upon stimulation with anti-human Ig antibody. The results revealed two distinct groups of CVID patients. The first group included patients whose B cells expressed low PTP levels after Ig stimulation. In these patients the plasma membrane implantation restored the normal PTP level as well as the ability to secrete IgM and/or IgG after B-cell stimulation. In the second group, patients whose B cells expressed a normal PTP level after Ig stimulation, with no restoration of their ability to secrete Ig upon plasma membrane implantation and lipopolysaccharide stimulation. We conclude that the first group has an early signal transduction defect located in the B-cell plasma membrane, while in the second group the defect is located elsewhere.  (+info)

Up-regulation of IL-12 in monocytes: a fundamental defect in common variable immunodeficiency. (6/340)

We show that LPS-stimulated circulating CD14-positive monocytes from patients with common variable immunodeficiency (CVID) express a higher proportion of intracellular IL-12-positive cells than monocytes from patients with X-linked agammaglobulinemia or normal subjects. We used four-color flow cytometry and measured IL-12 with an Ab to the p40 subunit following stimulation with LPS. The raised IL-12 is associated with an increased frequency of IFN-gamma-positive T cells, but not of IFN-gamma-positive CD56+ NK cells. These increases in frequency of cytokine-positive cells are due to a decrease in the absolute numbers of circulating monocytes and T cells that are negative for IL-12 and IFN-gamma, respectively. The increased frequency of IL-12-positive monocytes appears to be selective because TNF-alpha was not increased, and is thus unlikely to reflect a general activation. Chronic infection is also unlikely to explain our data since cells from X-linked agammaglobulinemia patients with a similar Ig deficiency do not show these changes. Our data suggest a fundamental abnormality in the IL-12/IFN-gamma circuit in CVID, with up-regulation of IL-12 being the "primary" factor. This imbalance is likely to skew the immune response away from Ab production and also explains the failure of CVID T cells to make Ag-specific memory cells and the chronic inflammatory and granulomatous complications that are a feature of CVID. This disease appears to be a rare example of a polarized Th1-type response and may in part be due to a genetic defect in the control of IL-12 production.  (+info)

Lymphoid interstitial pneumonitis associated with common variable hypogammaglobulinaemia treated with cyclosporin A. (7/340)

Lymphoid interstitial pneumonitis (LIP) is a rare clinicopathological entity that may be associated with common variable immune deficiency (CVID) and may lead to respiratory failure and death. Some patients may respond to prolonged corticosteroid treatment. We hypothesised that, in view of the predominant T cell nature of LIP, cyclosporin A would be a more appropriate choice of immunosuppressive agent and report the first case of its successful use in a woman with LIP associated with CVID.  (+info)

Long-term outcome of chronic hepatitis C virus infection in primary hypogammaglobulinaemia. (8/340)

The clinical course of HCV infection in patients with primary hypogammaglobulinaemia appears to be more severe than in immunocompetent patients. We studied the long-term course of chronic HCV infection in 20 Norwegian hypogammaglobulinaemia patients with a 13-15 year known history of HCV infection. Twelve of 20 patients developed cirrhosis during the observation period (1984-1999), and the remaining eight also had chronic liver disease verified by liver biopsy in the majority of the cases. Eleven of the 20 patients are dead. Two died following liver transplantation for HCV cirrhosis. Five died due to terminal liver failure without receiving a liver allograft. Two patients died from other causes, but with advanced liver disease contributing to the outcome, while two deaths were unrelated to the HCV infection. Among patients with common variable immunodeficiency (CVI), five out of six are dead. Two patients cleared the hepatitis C virus 3 years following interferon monotherapy, while three patients achieved a sustained response to combination therapy with interferon and ribavirin. Viral load did not seem to have a major impact on disease progression. Our results emphasize the severity of hepatitis C virus infection in patients with hypogammaglobulinaemia. Patients with CVI appear to have the poorest prognosis.  (+info)

*Common variable immunodeficiency

... (CVID) is an immune disorder characterized by recurrent infections and low antibody levels, ... As per the criteria laid out by ESID (European Society for Immunodeficiencies) and PAGID (Pan-American Group for ... CVID is a primary immunodeficiency. Treatment options are limited, and usually include lifelong immunoglobulin replacement ... Immunodeficiency), CVID is diagnosed if: the person presents with a marked decrease of serum IgG levels (. ...

*Neurosarcoidosis

Furthermore, those with Common Variable Immunodeficiency (CVID) may be at even higher risk. One study of 80 CVID patients found ... "Sarcoidosis and common variable immunodeficiency. Report of 8 cases and review of the literature". Medicine. 75 (5): 251-261. ... The most common abnormality is involvement of the facial nerve, which may lead to reduced power on one or both sides of the ... Erythema nodosum is far more common in men than in women and in Caucasians than in other races. In Japanese patients, ...

*Hypogammaglobulinemia

... is a characteristic of common variable immunodeficiency. causes: nephrotic syndrome Treatment is by ... "hypogammaglobulinemia" at Dorland's Medical Dictionary "common variable immunodeficiency" at Dorland's Medical Dictionary " ... Hypogammaglobulinemia is a type of primary immunodeficiency disease in which not enough gamma globulins exist in the blood ( ... In either case, mild allergic reactions (generalized pruritus, urticaria) are common, and are usually manageable with oral ...

*Selective immunoglobulin A deficiency

IgA deficiency and common variable immunodeficiency (CVID) feature similar B cell differentiation arrests, it does not present ... 2002). "Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined ... Hammarström, L.; Vorechovsky, I.; Webster, D. (2000). "Selective IgA deficiency (SIgAD) and common variable immunodeficiency ( ... and common variable immunodeficiency (CVID)". Clinical and Experimental Immunology. 120 (2): 225-231. doi:10.1046/j.1365- ...

*Granulomatous-lymphocytic interstitial lung disease

Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J Allergy Clin Immunol 2004;114: ... Granulomatous-lymphocytic interstitial lung disease (GLILD) is a lung complication of common variable immunodeficiency ... Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency ... in patients with common variable immunodeficiency (CVID). J Clin Immunol 2013;33:30-39 PMID 22930256 PMC3557581 Wehr C, Gennery ...

*Transmembrane activator and CAML interactor

"TACI is mutant in common variable immunodeficiency and IgA deficiency". Nature Genetics. 37 (8): 829-34. doi:10.1038/ng1601. ... TACI mutations are associated with immunodeficiency in humans, as a significant proportion of CVID patients have TACI mutations ...

*CD278

"Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency". Nature Immunology. 4 (3): 261-8. doi: ...

*Wolf-Hirschhorn syndrome

Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal ... Less common characteristics include hypospadias, colobomata of the iris, renal anomalies, and deafness. ... The most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, ...

*Mycoplasma orale

"Disseminated Mycoplasma orale infection in a patient with common variable immunodeficiency syndrome". Diagnostic Microbiology ... Contamination is common due to their small physical size, lack of cell wall, and pleomorphism. Pleomorphism is defined as an ... This comes as no surprise, as the class Mollicutes contains common commensals or pathogens of several different organisms. Many ...

*Thymoma with immunodeficiency

Some have defined GS as a subset of common variable immunodeficiency (CVID). Unlike CVID, there are reduced B cells in the ... Thymoma with immunodeficiency (also known as "Good syndrome") is a condition that occurs in adults in whom ... Good Syndrome (GS) is a rare primary immunodeficiency. It is broadly defined as hypogammaglobulinemia associated with presence ... Immunodeficiency does not resolve after thymectomy (Arnold, 2015). To treat the autoimmune component of the disease, immune- ...

*Danger model

2004). "Common variable immunodeficiency is associated with defective functions of dendritic cells". Blood. 104 (8): 2441-3. ... In the case of dendritic cells deficiency, like in common variable immunodeficiency (CVID), patients suffer by ...

*Actinomyces bovis

"Primary cutaneous actinomycosis caused by Actinomyces bovis in a patient with common variable immunodeficiency". Journal of ...

*Behçet's disease

"Optimal use of ivig in a patient with Behçet syndrome and common variable immunodeficiency". Ann. Allergy Asthma Immunol. 109 ( ... The most common symptoms include painful mouth sores, genital sores, inflammation of parts of the eye, and arthritis. The sores ... While rare in the United States and Europe, it is more common in the Middle East and Asia. In Turkey, for example, about 2 per ... Most common arterial lesions are occlusions or stenosis and aneurysms or pseudoaneurysms. The cause is not well-defined, but it ...

*Small intestinal bacterial overgrowth

Other causes include inherited immunodeficiency conditions, such as common variable immunodeficiency, IgA deficiency, and ... Other authors concluded that the abnormal breath results so common in IBS patients do not suggest SIBO, and state that " ...

*Hyper IgM syndrome

X-linked agammaglobulinemia Common variable immunodeficiency CVID) "OMIM Entry - # 308230 - IMMUNODEFICIENCY WITH HYPER-IgM, ... The fungus is common and is present in over 70% of healthy people's lungs, however, Hyper IgM patients are not able to fight it ... "OMIM Entry - 608184 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 4; HIGM4". www.omim.org. Retrieved 2 January 2018. "X-linked ... "OMIM Entry - # 606843 - IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3; HIGM3". www.omim.org. Retrieved 16 November 2016. "OMIM Entry ...

*NFKB2

1999) and Baldwin (1996).[supplied by OMIM] Mutation of the NFKB2 gene has been linked to Common variable immunodeficiency ( ... "Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency". ... "NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and ... The mutation occurs at the C-terminus of NFKB2 and it causes common variable immunodeficienciency which in turn causes ...

*HLA DR3-DQ2

"Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex ... whereas HLA types more common in Italy, Greece and the middle east are more common within this region of France. Other ... People with many common ancestors from Ireland share similar risks of disease. In the case of juvenile diabetes a clear ... A common serologically defined haplotype in Europeans is HLA A1-B8-DR3-DQ2.5 (see above). In non-persistent sarcoidosis this ...

*Mast cell activation syndrome

It is also found in subset groups of patients with common variable immunodeficiency (CVID) and Lyme disease. MCAS is a ... Common symptoms include: Dermatological flushing hives easy bruising either a reddish or a pale complexion itchiness burning ... Common triggers include: specific foods and drinks (especially alcohol, and high-histamine content foods) temperature extremes ... Common pharmacological treatments include: Mast cell stabilizers, including cromolyn sodium and natural stabilizers such as ...

*Plasma cell

Common variable immunodeficiency is thought to be due to a problem in the differentiation from lymphocytes to plasma cells. The ... Terminally differentiated plasma cells express relatively few surface antigens, and do not express common pan-B cell markers, ...

*Retinal vasculitis

"Retinal vasculitis occurring with common variable immunodeficiency syndrome," American Journal of Ophthalmology, vol. 129, no. ... Behçet's disease Common Variable Immune Deficiency Eales disease Granulomatosis with polyangiitis Idiopathic Retinal Vasculitis ...

*SWAP70

2002). "Analysis of SWAP-70 as a candidate gene for non-X-linked hyper IgM syndrome and common variable immunodeficiency". Clin ...

*Infectious causes of cancer

Certain other immune deficiency states (e.g. common variable immunodeficiency and IgA deficiency) are also associated with ... 2002). "Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined ... Because chronic viral hepatitis is so common, and liver cancer so deadly, liver cancer is one of the most common causes of ... Worldwide in 2015, the most common causes of cancer death were lung cancer (1.6 million deaths), liver cancer (745,000 deaths ...

*Community-acquired pneumonia

... to the less-severe common variable immunodeficiency. CAP's symptoms are the result of lung infection by microorganisms and the ... CAP is more common in males than females, and more common in black people than Caucasians[citation needed]. Patients with ... CAP is common worldwide, and a major cause of death in all age groups. In children, most deaths (over two million a year) occur ... CAP is common, affecting people of all ages, and its symptoms occur as a result of oxygen-absorbing areas of the lung (alveoli ...

*IgG deficiency

B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in ... and IgG4 deficiency is very common but usually asymptomatic. IgG1 is present in the bloodstream at a percentage of about 60-70 ...

*Autoimmunity

One example is common variable immunodeficiency (CVID) where multiple autoimmune diseases are seen, e.g.: inflammatory bowel ... Many common human autoimmune diseases can be seen to have a substantial innate immune mediated immunopathology using this new ... Instead, disease results from the exposure of cryptic N-glycan (polysaccharide) linkages common to lower eukaryotes and ... There are a large number of immunodeficiency syndromes that present clinical and laboratory characteristics of autoimmunity. ...

*Phage display

The most common bacteriophages used in phage display are M13 and fd filamentous phage, though T4, T7, and λ phage have also ... "Recombinant human Fab fragments neutralize human type 1 immunodeficiency virus in vitro". Proc. Natl. Acad. Sci. U.S.A. 89 (19 ... filamentous phage displaying antibody variable domains". Nature. 348 (6301): 552-554. Bibcode:1990Natur.348..552M. doi:10.1038/ ... "In vitro evolution of a neutralizing human antibody to human immunodeficiency virus type 1 to enhance affinity and broaden ...
This article explains the recovery period for common variable immune deficiency (CVID), prognosis/outlook, prevention, coping and yoga for common variable immune deficiency (CVID).
Morbidity and mortality in common variable immune deficiency over 4 decades.: The demographics, immunologic parameters, medical complications, and mortality sta
Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency (PID) in adulthood and is characterized by severe reduction of immunoglobulin serum levels and impaired antibody production in response to vaccines and pathogens. Beyond the susceptibility to infections, CVID encompasses a wide spectrum of clinical manifestations related to a complex immune dysregulation that also affects liver. Although about 50% CVID patients present persistently deranged liver function, burden, and nature of liver involvement have not been systematically investigated in most cohort studies published in the last decades. Therefore, the prevalence of liver disease in CVID widely varies depending on the study design and the sampling criteria. This review seeks to summarize the evidence about the most relevant causes of liver involvement in CVID, including nodular regenerative hyperplasia (NRH), infections and malignancies. We also describe the clinical features of liver disease in some monogenic forms
Germinal center follicular T helper (GCTfh) cells are essential players in the differentiation of B cells. Circulating follicular T helper (cTfh) cells share phenotypic and functional properties with GCTfh cells. Distinct subpopulations of cTfh with different helper capabilities towards B cells can be identified: cTfh1 (CXCR3+CCR6-), cTfh2 (CXCR3-CCR6-) and cTfh17 (CXCR3-CCR6+). Alterations in cTfh function and/or distribution have been associated with autoimmunity, infectious diseases and more recently with several monogenic immunodeficiencies. Common variable immunodeficiency disease (CVID) is the commonest symptomatic primary immunodeficiency (PID) with a genetic cause identified in only 2-10% of patients. Although a heterogeneous disease, most patients show a characteristic defective B cell differentiation into memory B cells or antibody secreting cells. We investigated if alterations in CVID cTfh cells frequency or distribution into cTfh1, cTfh2, cTfh17 subpopulations and regulatory follicular T
Must have a verifiable diagnosis of common variable immune deficiency specifically a decrease both in IgG and at least one other Ig isotype to below two standard deviations of normal control levels.. Must be age 10 years old or older for patients with gastrointestinal symptoms or age 18 years or older in the absence of gastrointestinal symptoms.. Must be free of active sinopulmonary or other infection at time of enrollment.. Must have negative results on stool examination for culture of enteric pathogens (Salmonella, Shigella, Yersinia, Campylobacter, Vibrio, E. Coli O157/H7), Clostridia difficile toxin assay, enteric parasites and their ova (including Cryptosporidia, Cyclospora, Microsporidia and Giardia (by stool EIA)).. Adults who are unable to provide initial or on-going consent may participate in this study.. EXCLUSION CRITERIA:. Absence of other antibody deficiency states including X-linked agammaglobulinemia, hyper IgM syndrome, selective deficiency of IgG subclass, and Ig heavy chain ...
Common Variable Immune Deficiency (CVID) is a syndrome containing a spectrum of disorders which results in weakened immunity and recurrent infections. The ESID (European Society for Immunodeficiencies) CVID definition includes patients with marked decrease of IgG (at least 2 standard deviations below the mean for age). Patients must also have disease onset at an age over 2 years, absent isohaemagglutinins and/or response to vaccines and other defined causes of hypogammaglobulinaemia must be excluded. The Euroclass system of classifying CVID is the result of a European multicentre trial attempting to develop a consensus of two existing classification schemes of B-cell immunophenotyping. In this paper it was shown that B-cell immunophenotype correlated with coincidence of clinical sequelae and it suggested implementing this to further classify CVID to give prognostic and therapeutic information. However, it has not yet been shown that these alterations in B-cell immunophenotype are the result of ...
TY - JOUR. T1 - Membranous nephropathy in a 13-year-old boy with common variable immunodeficiency. AU - Yim, Hyung-Eun. AU - Yoo, Kee Hwan. PY - 2012/12/1. Y1 - 2012/12/1. N2 - Various forms of hypogammaglobulinemia can occur in patients with autoimmune diseases and vice versa. We report a 13-yr-old boy with membranous nephropathy and common variable immunodeficiency. He presented with the nephrotic syndrome, pneumonia with bronchiectasis, and profound hypogammaglobulinemia. Renal biopsy showed diffusely thickened glomerular capillary walls with spikes suggesting a membranous nephropathy. Secondary causes were ruled out by laboratory studies;however, heavy proteinuria persisted with steroid therapy. Cyclosporine and intravenous immunoglobulin were added, and the patient was discharged with decreased proteinuria. Hypogammaglobulinemia may have a deleterious impact on the immune dysregulation in some patients with membranous nephropathy.. AB - Various forms of hypogammaglobulinemia can occur in ...
Common Variable Immunodeficiency (CVID) What is common variable immunodeficiency (CVID)? CVID is an immunodeficiency disorder characterized by a low level of antibodies, making it difficult for the childs body to fight diseases. The child then becomes sick with recurrent infections. The disease may become evident during infancy, childhood, puberty, or even later into adulthood. The symptoms of the disease are very different for each child affected, which is why it is called a variable group of disord...
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 ...
MalaCards based summary : Immunodeficiency 7, Tcr-Alpha/beta Deficient, also known as t-cell receptor-alpha/beta deficiency, is related to cr2-related common variable immune deficiency, and has symptoms including failure to thrive, recurrent infections and lymphadenopathy. An important gene associated with Immunodeficiency 7, Tcr-Alpha/beta Deficient is TRAC (T-Cell Receptor Alpha Constant). The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include t cells and liver ...
Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the bodys tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; ...
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
Dr. Richmond is a national expert in primary immune diseases such as common variable immune deficiency (CVID). He also provides expert care for the symptoms of pediatric and adult allergy and asthma.
Molly Bell discusses information on Common Variable Immune Deficiency and Immune disorders as she maneuvers through her own life. The discussion between bipolar disorder and CVID are explored.
Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency in adults. CVID clinically presents with a history of recurrent infections at mucous membranes which is the consequence of a marked hypogammaglobulinemia [1]. The clinical course of CVID is complicated by a plethora of systemic immunopathology including autoimmunity, lymphoproliferation, malignancy and sarcoid-like granulomas.. CVID affects males and females equally and usually manifests in the second or third decade of life. A second peak of onset exists in childhood between the ages of 2 and 5 years [2, 3]. The prevalence of CVID in the Western hemisphere is estimated to be approximately 1: 25.000 [1, 4].. The majority of CVID cases are sporadic, while approximately 10 to 20% of CVID cases show at least one additional family member affected either by CVID or selective IgA deficiency (sIgAD) [5, 6]. Most multiplex CVID families show an autosomal dominant mode of inheritance but about 20% present ...
2014, Springer Science+Business Media New York. Purpose: Common variable immunodeficiency (CVID) is the most frequent form of primary symptomatic hypogammaglobulinemia. CVID patients display a number of abnormalities in lymphocyte subpopulations including chronic T-cell activation and decreased numbers of circulating CD4+ T cells and NK cells. We and others have recently shown that CVID is associated with increased concentration of soluble CD14 (sCD14) and other factors indicating limited microbial translocation.Methods: To address the mechanisms of chronic immune activation in CVID, we performed a detailed analysis of cytokine serum levels in 36 patients with CVID, 52 patients with selective IgA deficiency (IgAD), and 56 healthy volunteers.Results: We show that CVID is associated with elevated serum levels of CXCL-10/IP-10, IL-1R antagonist, TNF-α, IL-10, IL-12 (p40), CCL-2/MCP-1, G-CSF, and CCL-11/eotaxin. The detected cytokine signature is consistent with an ongoing activation of cells of ...
Celiac.com 07/09/2010 The enteropathy associated with common variable immunodeficiency (CVID) is the most common symptomatic primary antibody deficient syndrome, with an estimated prevalence of one in one-hundred thousand to one in fifty thousand.
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
Common Variable Immunodeficiency is a heterogeneous group of disorders characterized by hypogammaglobulinemia, impaired antibody responses to infectio...
... is the most commonly diagnosed primary immunodeficiency. It is characterized by low antibody levels and recurrent inf...
Two patients with common variable immunodeficiency (CVID) and malignant tumours are reported. The first patient developed myelogenous leukaemia soon after the myelodysplastic syndrome has been...
Stem cell transplantation for patients with common variable immunodeficiency - a retrospective world-wide study of the current experience
Definition of common variable immunodeficiency. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
Females have a longer lifespan and better general health than males. Considerable number of studies also demonstrated that, after trauma and sepsis, females present better outcomes as compared to males indicating sex-related differences in the innate immune response. The current notion is that differences in the immuno-modulatory effects of sex hormones are the underlying causative mechanism. However, the field remains controversial and the exclusive role of sex hormones has been challenged. Here, we propose that polymorphic X-linked immune competent genes, which are abundant in the population are important players in sex-based immuno-modulation and play a key role in causing sex-related outcome differences following trauma or sepsis ...
Background: Common variable immunodeficiency (CVID) is a primary immune disorder associated with hypogammaglobulinemia, recurrent infections and autoimmune diseases. CVID patients are frequently in contact with infectious pathogens leading to the activation of innate immunity through Toll-like receptors (TLR) affecting adaptive immunity. The aim of the present study was to test the immunomedulatory effect of small molecule G2013, a novel designed non-steroidal anti-inflammatory agent in CVID. Materials and Methods: After blood sampling from 16 CVID patients and 16 age- and sex-matched healthy controls, peripheral blood mononuclear cells (PBMCs) were isolated and treated with/without lipopolysaccharide (LPS), lipopolyteichoic acid (LTA), and G2013. Assessing the immunomodulatory effect of G2013, flowcytometry was done for quantify the protein expression of TLR2 and TLR4. Gene expressions of signaling molecules involved in the TLR2 and TLR4 pathways were assessed by real-time PCR. ELISA performed
Lack of antibodies, recurrent infections, adrenocorticotropic hormone (ACTH) deficiency and autoimmune hair loss are features in patients that have been associated with mutations in the NFKB2 gene(2,6). We therefore postulated a causative NFKB2 gene defect in two unrelated cases from Epsom & St. Helier University Hospitals, with these clinical features. To verify this, we sequenced the NFKB2 gene in these patients, measured the expression of protein p100, evaluated B- and T-cell subsets and performed quantitative functional assessment of the non-canonical NFκB signalling pathway.. Sequencing identified novel heterozygous genetic variants at position 2604 in the NFKB2 gene in both patients, causing the same amino acid change i.e tyrosine to termination at position 868 in the encoded protein p100. This resulted in a truncated form of p100, p100Δ33, which is 33 amino acids shorter than the normal form of the protein. Interestingly, this mutation in the two unrelated patients is identical to that ...
This study assesses histological and genetic alterations in the gastric mucosa of patients with CVID and correlates these withH pylori infection. The prevalence ofH pylori infection was greater than that reported elsewhere.18 24 However, in these studies, the presence of the bacterium was only determined by histology (without Giemsa staining) on a single antral and a single gastric body biopsy specimen. It is possible that the prevalence of H pylori infection was therefore underestimated in these studies. In addition, the general prevalence of this infection in Italy is higher than that found in the United Kingdom and United States,25 increasing the likelihood of transmission to these patients. In addition, no patient was on prophylactic antibiotic therapy in our cohort.. Our results show that the prevalence of chronic active gastritis involving both antrum and body was significantly higher inH pylori positive (79%) thanH pylori negative (20%) patients. Moreover, MAG was observed more frequently ...
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Autoimmun Rev. 2014 Aug;13(8):858-64. doi: 10.1016/j.autrev.2014.04.006. Epub 2014 Apr 18. Research Support, Non-U.S. Govt; Review
The analysis of B cell development and diversification in humans is problematic and, to a degree, has been inferred from analyses of other mammalian species. However, nature often provides material that is every bit as informative as that generated by laboratory geneticists. One example is patients with common variable immune deficiencies (CVIDs). Among this heterogeneous group are individuals with mutations in key genes required for the formation of GCs (11), which, as mentioned, are sites of antigen-driven repertoire diversification mediated by V gene SHM (1, 2). GC B cell survival and entry into the memory compartments is selective and depends on the affinity with which their receptors bind antigen (12), with higher affinity cells expanding preferentially. This antigen-mediated selection results in a distribution of mutations in the V gene segments of memory B cells that is significantly different from the distribution that would be predicted if mutations were inserted at random; changes ...
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 ...
Researchers at Karolinska Institutet have in collaboration with Spanish colleagues identified epigenetic alterations in Common Variable Immunodeficiency (CVID), the most common primary immunodeficiency, using as a starting point genetically identical monozygotic twins discordant for the disease. The findings are being published in the journal Nature Communications, and may open a door to future research avenues for the diagnosis and treatment of patients with CVID.
We investigated the association of circulating B‐cell subsets with the occurrence of secondary cardiovascular events in severe carotid atherosclerotic patients undergoing carotid endarterectomy. We found that high levels of (un)switched memory cells were independently associated with the freedom of recurrent cardiovascular events, suggesting that patients with high numbers of (un)switched B cells are protected against secondary cardiovascular manifestations.. Patients with autoimmune diseases, such as systemic lupus erythematosus and common variable immunodeficiency, have an increased risk of developing CVD. Production of (auto)antibodies by B lymphocytes is a hallmark of autoimmune disease and autoantibody formation is also evident in atherosclerotic patients. SLE patients have reduced levels of both switched and unswitched memory cells,19 and decreased levels of unswitched memory cells are associated with increased levels of SLE autoantibodies.19 Furthermore, in patients with common variable ...
Monogenic defects of primary immunodeficiency can present as severe neonatal IBD, including epithelial barrier defects, phagocyte defects (Chronic granulomatous disease, defects of NADPH oxidase LAD), B and T cell abnormalities (Severe combined immunodeficiency, common variable immunodeficiency, Wiskott-Aldrich Syndrome, immunodysregulation polyendocrinopathy enteropathy X-linked syndrome), autoimmunity (including XLP2) and IL-10R defects. Due to this patients severe refractory disease and age of onset, evaluation for primary immunodeficiency was performed. Although the immune work up was unrevealing, evaluation of WES data demonstrated a whole gene deletion of XIAP.. X-linked lymphoproliferative disease, XLP1, first described in 1974 by Purtilio, results in the immunodeficiency of severe susceptibility to EBV due to defects in NK cell mediated toxicity, and leads to hemophagocytic lymphohistocytosis (HLH), dysgammaglobulimemia and lymphoma [17]. This triad is secondary to inactivating ...
Lee JJ, Rauter I, Garibyan L, Ozcan E, Sannikova T, Dillon SR, Cruz AC, Siegel RM, Bram R, Jabara H, Geha RS. The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. Blood. 2009 Sep 10; 114(11):2254-62. View abstract ...
Researchers of the Chromatin and Disease Group from the Bellvitge Biomedical Research Institute (IDIBELL) and La Paz Hospital (IDIPAZ) have identified epigenetic alterations in Common Variable Immunodeficiency (CVID), the most common primary immunodeficiency, using as a starting point genetically identical monozygotic twins discordant for the disease.
The human MHC spans ∼4 megabases (Mb)3 of DNA in the chromosome band 6p21.3. Of this, the central ∼1.1 Mb is termed the class III region (1). It is becoming increasingly apparent that, in common with the MHC class I and II regions (for review see 2), the class III region contains many genes that encode proteins involved in immune and inflammatory responses (3). These include the C2, C4, and factor B components of the complement system, members of the 70-kDa heat shock protein family, the cytokines TNF, lymphotoxin α (LTα) and LTβ (3), and the inflammatory mediator lysophosphatidic acid acyltransferase (4). Furthermore, genetic studies have indicated that genes within the MHC contribute to immune-related diseases, such as insulin-dependent diabetes mellitus (IDDM), rheumatoid arthritis, ankylosing spondylitis, myasthenia gravis, common variable immunodeficiency (CVID), and IgA deficiency (5, 6). Strong associations have been found between these diseases and alleles of genes in the MHC ...
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 ...
BOF: 152. A 32 year old male presents with a history of cough and progressive breathlessness. He had also lost weight and felt fatigued. He gave a history of having had giardiasis the previous year. Apart from that there was no history of any significant illness and he was not on any drugs. He did not smoke or drink. He worked as a hair dresser and he was unmarried.. On examination he was thin, no skin lesions, no clubbing, pulse 90 beats per minute regular, heart sounds were normal. There were scattered crepitations in both lungs. No other abnormal findings. Chest X-ray showed fine nodules throughout the lung fields.. Bronchoscopy was performed and biopsies revealed non-caseating granuloma. In this patient what is the most likely diagnosis?. a) Histoplasmosis b) Tuberculosis c) Atypical mycobacterial infection d) Sarcoidosis e) Common variable immunodeficiency ...
Food toxins and Gastrointestinal disorders. Kristjánsson et al. Mucosal reactivity to cows milk protein in coeliac disease Clin Exp Immunol. 2007 Mar;147(3):449-55. http://www.ncbi.nlm.nih.gov/pubmed/17302893. Beyer et al. Fructose intake at current levels in the United States may cause gastrointestinal distress in normal adults. J Am Diet Assoc. 2005 Oct;105(10):1559-66. http://www.ncbi.nlm.nih.gov/pubmed/16183355. Daniels et el. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. Am J Surg Pathol. 2007 Dec;31(12):1800-12. http://www.ncbi.nlm.nih.gov/pubmed/18043034. Nieuwenhuizen WF et el. Is Candida albicans a trigger in the onset of coeliac disease? Lancet. 2003 Jun 21;361(9375):2152-4. http://www.ncbi.nlm.nih.gov/pubmed/12826451. Drago S, El Asmar R, Di Pierro M, et al. Gliadin, zonulin and gut permeability: Effects on celiac and non-celiac intestinal mucosa and intestinal cell lines. Scandinavian Journal of ...
CVID (common variable immunodeficiency) er den mest vanlige formen for symptomgivende primær immunsvikt. Hensikten med studien er å undersøke mulige årsaksmekanismer ved hjelp av nye diagnostiske metoder og å prøve å identifisere undergrupper av pasienter som har mindre varierende sykdomsbilder. Sykdommen karakteriseres av manglende evne til å produsere immunglobulin som virker beskyttende mot infeksjoner. I tillegg sliter mange av pasientene med sykdommer i ulike organer som lunge, tarm og milt på grunn av manglende kontroll over immunsystemet. Årsaken til sykdommen er uavklart, og pasientene har svært ulike sykdomsbilder. Vår hypotese er at mangelfull kommunikasjon mellom hvite blodceller resulterer i en ineffektiv immunrespons hos CVID-pasientene. Cellekommunikasjon skjer ved hjelp av overflatereseptorer som er koblet til indre signalveier i cellen. Vi ønsker å kartlegge mønsteret av cellekommunikasjon ved hjelp av nye diagnostiske metoder. Så langt har vi undersøkt hvordan ...
Case of recurrent bacterial infections - investigation, diagnosis and treatment of Complement Deficiency and study of immunology of defects in lytic activity
Airway disease is an important complication of CVID and HRCT and PFTs are gaining important complementary roles in monitoring it. We showed that in children with CVID disorders, HRCT air trapping measurements are significantly correlated with PFTs and disease duration, and that interobserver agreement for HRCT airway wall thickening assessment can be improved by using automated quantitative techniques compared to visual scores. Thus, automated quantitative HRCT, especially for air trapping, may prove useful for monitoring disease progression in CVID patients.. For air trapping, we demonstrated that visual, as well as quantitative, HRCT measurements correlate significantly with PFTs and disease duration. For visual scoring of air trapping, previous studies have also found a significant correlation with PFTs in CVID patients [20]. These data and our data indicate that HRCT-diagnosed air trapping is related to relevant airway obstruction in these patients. The advantage of our study is the use of ...
Looking for online definition of common variable hypogammaglobulinemia in the Medical Dictionary? common variable hypogammaglobulinemia explanation free. What is common variable hypogammaglobulinemia? Meaning of common variable hypogammaglobulinemia medical term. What does common variable hypogammaglobulinemia mean?
Looking for online definition of immunodeficiency, common variable, type 4 in the Medical Dictionary? immunodeficiency, common variable, type 4 explanation free. What is immunodeficiency, common variable, type 4? Meaning of immunodeficiency, common variable, type 4 medical term. What does immunodeficiency, common variable, type 4 mean?
A 2 year-5 months old girl was referred for intermittent fever and cutaneous erythematous, painful nodular lesions on feet, ankles and pretibial regions. A skin biopsy showed a necrotizing non-granulomatous vasculitis. Diagnosis of cutaneous polyarteritis nodosa was made and treatment with methotrexate (MTX), prednisone and ibuprofen was started. One year later, due to insufficient response, MTX was switched to azathioprine. We obtained a good clinical control in 4 months, thus NSAIDs and steroids were progressively stopped. At an 8 months follow-up, laboratory test were all in the normal range, except for progressive hypogammaglobulinemia (IgA and IgM, 29.4 mg/dl; and 28 mg/dl; IgG= 571 mg/dl). Immunological tests showed: IgG2 deficiency (42 mg/dl) total white count at lower limits, with lymphopenia (21.6%); lymphocyte subpopulations showed deficiency of CD19+ B cells (3%, normal values: 6-25%) and a poor response to protein vaccines. Due to the 1-year persistent remission on therapy, AZA was ...
In recent years several rare autosomal recessive disorders that result in antibody deficiency have been reported. Some antibody deficiencies are part of a more broadly expressed systemic disorder or part of an immunodeficiency that affects T cells and/or NK cells as well as B cells. The possibility of immunodeficiency should be considered in any patient who is hospitalized for a major infection requiring intravenous therapy. Most patients with X-linked agammaglobulinemia (XLA) develop recurrent or persistent infections in the first 4 to 8 months of life, and the majority are recognized to have immunodeficiency at less than 3 years of age. Defects in μ heavy chain account for about one-third of the patients with autosomal recessive agammaglobulinemia. Mutation detection is the most practical way of making a definitive diagnosis. Single gene defects of the immune system may have features in common with common variable immunodeficiency (CVID). Recent studies suggest that analysis of B-cell phenotype may
MalaCards based summary : Common Variable Osteogenesis Imperfecta with Normal Sclerae, also known as osteogenesis imperfecta type iv, is related to osteogenesis imperfecta, type iv and osteogenesis imperfecta. An important gene associated with Common Variable Osteogenesis Imperfecta with Normal Sclerae is COL1A2 (Collagen Type I Alpha 2 Chain ...
IMPORTANT SAFETY INFORMATION:. Flebogamma® 10% DIF is an immune globulin intravenous (human) 10% preparation that is indicated for the treatment of primary immunodeficiency disease (PIDD), including the humoral immune defect in common variable immunodeficiency, x-linked agammaglobulinemia, severe combined immunodeficiency, and Wiskott-Aldrich syndrome. Flebogamma 10% DIF is also indicated for the treatment of chronic primary immune thrombocytopenia (ITP) in patients 2 years of age and older.. Thrombosis may occur with immune globulin products, including Flebogamma 10% DIF. Risk factors may include: advanced age, prolonged immobilization, hypercoagulable conditions, history of venous or arterial thrombosis, use of estrogens, indwelling central vascular catheters, hyperviscosity, and cardiovascular risk factors. Thrombosis may occur in the absence of known risk factors. For patients at risk of thrombosis, administer Flebogamma 10% DIF at the minimum dose and infusion rate practicable. Ensure ...
A subset of patients with common variable immunodeficiency (CVID) develops granulomatous and lymphocytic interstitial lung disease (GLILD), a restrictive lung disease associated with early mortality.
BACKGROUND: Chronic venous disease (CVD) is extremely common worldwide. The prevalence is increasing with age and is associated with a reduced quality of life, particularly in relation to pain, physical function and mobility. Symptomatic chronic veno
Synonyms for acquired hypogammaglobulinemia in Free Thesaurus. Antonyms for acquired hypogammaglobulinemia. 1 word related to hypogammaglobulinemia: immunodeficiency. What are synonyms for acquired hypogammaglobulinemia?
Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs. Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata® and Excel. Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1-25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of ...
Introduction: The German PID-NET registry was founded in 2009, serving as the first national registry of patients with primary immunodeficiencies (PID) in Germany. It is part of the European Society for Immunodeficiencies (ESID) registry. The primary purpose of the registry is to gather data on the epidemiology, diagnostic delay, diagnosis, and treatment of PIDs. Methods: Clinical and laboratory data was collected from 2,453 patients from 36 German PID centres in an online registry. Data was analysed with the software Stata® and Excel. Results: The minimum prevalence of PID in Germany is 2.72 per 100,000 inhabitants. Among patients aged 1-25, there was a clear predominance of males. The median age of living patients ranged between 7 and 40 years, depending on the respective PID. Predominantly antibody disorders were the most prevalent group with 57% of all 2,453 PID patients (including 728 CVID patients). A gene defect was identified in 36% of patients. Familial cases were observed in 21% of ...
Helpful, trusted answers from doctors: Dr. Press on are people that have cvid at a higher risk if cancer: Unfortunately patients and family members of cvid patients have an unusually high incidence of IgA deficiency, autoimmune diseases, autoantibodies, and malignancy. Our body has its own surveillance system that destroys cancer cells. With an immune deficiency these cells are much less in number and less effective.
These data were collected to study the effect of mens backgrounds on their careers. The 1962 and 1973 surveys (Parts 1 and 2) were intended to supplement the March Current Population Surveys conducted by the Census Bureau. The Replicate Data file (Part 3) is a recoded subset of the common variables from the 1962 and 1973 data files. This file was designed to facilitate carrying out comparative analyses of the 1962 and 1973 data. Variables include respondents age, employment history, military service (1973 only), marital history, ethnicity, income, education, and (in 1962 only) number of children. Also included is information about educational attainment and occupation of the head of the household in which the respondent lived at age 16, intact family, mothers educational attainment (1973 only), number of siblings, and educational attainment of the respondents oldest and (in 1973 only) youngest brother. Similar data on education, current occupation, and income are available for wives of ...
Immunodeficiency disorders occur when the immune system doesnt function properly or work at all to defend the body from infection. Causes of primary immunodeficiency stem from heredity or genetics while second immunodeficiency can occur because of environmental factors.
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The majority of individuals diagnosed with a primary immunodeficiency (PI) have defects in their immune systems ability to make antibodies to fight infections. Consequently, they rely on life-long immunoglobulin (Ig) replacement therapy. Ig comes from human plasma and is used to replace the antibodies that are needed to protect them from life-threatening infections.
An individuals major histocompatibility complex (MHC) ancestral haplotype (AH) is the dearest single determinant of susceptibility to MHC associated immunopathological disease, as it defines the alleles carried at all loci in the MHC. However, the direct effects of any of the 150-200 genes that constitute the MHC are difficult to determine since recombination only occurs at defined hotspots. This review concerns the 8.1 AH (HLA-A1, C7, B8, C4AQ0, C4B1, DR3, DQ2), which is carried by most Caucasians with HLA-B8. It is associated with accelerated human immunodeficiency virus (HIV) disease, and susceptibility to insulin-dependent diabetes mellitns (IDDM), systemic lupus erythematosus, dermatitis herpetiformis, common variable immunodeficiency and IgA deficiency, myasthenia gravis and several other conditions. We have mapped susceptibility genes for HIV, IDDM and myasthenia gravis co the central MHC between HLA-B and the tumour necrosis factor or complement genes. Here we consider which of the ...
In this study, we examined the effect of Ang-1, a proangiogenic and antiapoptotic factor, on islet survival, function, and revascularization posttransplantation in diabetic mice. To determine the net effect of Ang-1 on islet mass in the absence of variable immune rejections, we used a syngeneic islet transplantation model. We show that diabetic mice receiving a marginal islet mass that was pretransduced by Ang-1 vector exhibited significantly improved glycemic control and glucose-stimulated insulin secretion compared with diabetic mice receiving control vector-transduced islets. Furthermore, islet grafts with elevated Ang-1 production displayed a relatively higher content of intragraft capillaries than that displayed by control islet grafts. To account for the beneficial effect of Ang-1 on marginal islet transplantation, we investigated the effect of Ang-1 on the survival and function of cultured islets in the absence and presence of cytokines. We show that cultured islets were associated with ...
The immunological relationship between different Vespula species has been demonstrated by in vitro specific IgE measurements (RAST) and RAST-inhibition studies (13). Significant immunological differences among the species were found and these differences correlated with the morphological, behavioral and ecological characteristics of the species. Cross-reactivity between venoms from yellow jacket (Vespula spp), hornets (Dolichovespula spp, i2 or i5 and Vespa spp, i75) and wasp (Polistes spp, i4) has also been investigated by specific IgE measurements and RAST inhibition studies (2-3). These studies showed that there are varying extents of antigenic cross-reactivity between venoms, depending on the patient sera. The results reflect in part the variable immune response of patients to venoms because venoms are mixtures of allergens. Cross-reactivity between different major allergens from yellow jacket (YJ) and from honeybee and different wasp and hornet species has been identified (4-6). There is a ...
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.
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 ...
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. ...
Our multidisciplinary Primary Immunodeficiency Program takes an integrated approach to the evaluation and treatment of this complex group of diseases.
Low gamma globulin or hypogammaglobulinemia is a deficiency of gamma globulin and a deficiency in the formation of antibodies, and it can be caused either by primary antibody deficiency syndromes or...
Background. Mycoplasma amphoriforme has been associated with infection in patients with Primary Antibody Deficiency (PAD). Little is known about the natural history of infection with this organism and its ability to be transmitted in the community.. Methods. The bacterial load was estimated in sequential sputum samples from nine patients by qPCR. The genomes of all available isolates, originating from patients in the UK, France and Tunisia, were sequenced along with the type strain. Genomic data was assembled, annotated and a high-resolution phylogenetic tree constructed.. Results. By using high-resolution whole genome sequence data we show that patients can be chronically infected with M. amphoriforme manifesting as a relapsing remitting bacterial load interspersed by periods when the organism is undetectable. Importantly we demonstrate transmission of strains within a clinical environment. Antibiotic resistance mutations accumulate in isolates taken from patients who received multiple courses ...
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.. ...
A volume ventilator having a plurality of integrated modes of operation for providing a patient with a flow of breathing gas under pressure. A plurality of adjustable setting devices each producing an individual threshold signal related to a parameter of the gas flow. Mode switching means provides for the selection of at least one mode signal. Each threshold signal is compared with a common variable signal for producing a plurality of control signals. At least one of the control signals is selected in accordance with the selected mode signal and that control signal is applied to a valve system for controlling flow of gas to the patient. In this manner, the setting devices may be continuously adjusted to change one or more of the threshold signals without varying any of the other threshold signals. There is further provided a comprehensive system of alarms.
OK, then the first line looks correct. However I dont know how the assumptions youre making regarding conditional independence allow you to get your simplification on the second line. If the two networks (a,b), (c,d) are conditionally independent, then I believe your simplifications are correct if they are taken individually. However, Im not sure why you would combine them since they have no common variables ...
Another name for Hypogammaglobulinemia is Agammaglobulinemia. Because a person with agammaglobulinemia is missing antibodies, treatment includes replacing ...
classification 1- Granulomatous & infectious dis. 2- Neoplastic dis. 3- Disease of bone 4- Storage dis. 5- Collagen vascular dis. 6- Immunodeficiency disorder (primary, acquired )
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.
The Allergy & Asthma Center in Maryland provides treatment for immunodeficiency disorders in adults and children. For treatment, contact us today at 1-800-778-9923.
Ataxia telangiectasia (AT) is an autosomal recessive multisystem disorder characterized by variable immunodeficiency, progressive neurodegeneration, occulocutaneous telangiectasia, and an increased susceptibility to malignancies. This study was designed to study the role of proapoptotic BAK, BAX, and NBK/BIK genes in a group of patients with AT to elucidate the possible role of these genes in progression of malignancies in this disease. Fifty Iranian patients with AT were investigated in this study. The entire coding regions of the BAK gene (exons 2-6), NBK/BIK gene (exons 2-5), and BAX gene (exons 1-7) were amplified using polymerase chain reaction (PCR). The PCR products were separated by 2% agarose gel electrophoresis, and all positive samples were verified by direct sequencing of PCR products using the same primers used for PCR amplification, BigDye chemistry, and Avent 3100 Genetic Analyzer following the manufacturers instructions (Applied Biosystems). Eight of fifty Iranian AT patients (16%)
The term primary immunodeficiency disease denotes disorders resulting from the mostly inherited defects of the immune system. Multiple isolated defects and combined disorders have been described, including humoral immunodeficiencies, the severe combi
Thursday, June 15 & Friday, June 16 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. ...
Thursday, June 15 & Friday, June 16 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. ...
Exchange of ideas and information among doctors, nurses, biomedical investigators, patients and their families concerned with primary immunodeficiency diseases (PID).
Exchange of ideas and information among doctors, nurses, biomedical investigators, patients and their families concerned with primary immunodeficiency diseases (PID).
Because primary immunodeficiency diseases (PI) are so rare, many doctors are unfamiliar with how to diagnose and treat them. This is why a PI diagnosis can take some time. Doctors often try ruling out other problems first, and as such, the average amount of time from the onset of symptoms to diagnosis is between 9 and 15 years, based on survey data from the Immune Deficiency Foundation (IDF). Unlike people with more common conditions, an individual with PI may be the only person with PI who the ...
Dr. Nivedita Dhingra is Best Hemato Oncologist at Jaypee Hospital, Noida. Her area of interest is in Acute Leukemia, Stem Cell Transplants, Bleeding Disorders, Immunodeficiency Disorders, etc... Check Dr. Niveditas Consultation Fee and Book Appointment with Elacancer.
Recurrent respiratory infections in adults may indicate an underlying problem such as immunodeficiency disorders or lung cancer. Learn about causes.
Protein losing enteropathy refers to any condition of the gastrointestinal tract (e.g. damage to the gut wall) that results in a net loss of protein from the body. The signs/symptoms of protein losing enteropathy are consistent with diarrhea, fever, and general abdominal discomfort. Swelling of the legs due to peripheral edema can also occur, however if the PLE is related to a systemic disease such as congestive heart failure or constrictive pericarditis, then the symptoms could be of the primary disease development. The causes of protein-losing enteropathy can include GI conditions (among other causes), like the following: Inflammatory bowel disease. Idiopathic ulcerative jejunoileitis. Infection (secondary obstruction) Neoplasm (secondary obstruction) Sarcoidosis (secondary obstruction). Amyloidosis. Systemic lupus erythematosus (SLE). Ménétriers disease. Zollinger-Ellison syndrome. Eosinophilic gastroenteritis. Coeliac disease Common variable immunodeficiency (CVID) Primary intestinal ...
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
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
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 ...
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.. ...
Immunodeficiency disorders happen when one or more components of your immune system are missing or when the system is not working as supposed to be. Defects in ones immune system can be congenital or acquired. Either way, having problems with the immune system permits harmful microorganisms to easily penetrate the bodys defenses and make anyone suffer various diseases.. Congenital Or Primary Type. If you are born with deficiencies in your immune system, you are said to be suffering from primary immunodeficiency. If you have the primary type of this disease, you may not be able to enjoy life like other people do. Your predisposition to contract all sorts of contagious diseases may start in your childhood days or it may not make its presence known until later in life. The following are two of the most common examples of inborn immunodeficiency disorder.. IgA Deficiency. IgA refers to your Immunoglobulin A which is basically a group of antibodies that are mainly found in your respiratory and ...
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Infectious Disease Advisor is used by specialists and other medical professionals to help understand and treat infectious diseases. Latest news, research and treatment articles.
Diagnosis:. Primary immunodeficiency usually occurs immediately after the birth of the child or some time after it. For a precise diagnosis, a number of complex immunological and genetic analyzes are carried out - this helps to determine the area of an immune defect (cell or humoral) and also to determine the type of mutation that caused the disease.. Secondary immunodeficiencies can develop at any period of life. Immunodeficiency can be suspected in the case of frequently recurring infections, the transition of an infectious disease to a chronic form, inefficient conventional treatment, a small but prolonged increase in body temperature. To establish an accurate diagnosis of immunodeficiency, various tests are needed: a general blood test, determination of blood protein fractions, specific immunological tests.. Treatment:. Complex treatment of primary immunodeficiencies begins with an accurate diagnosis.. With insufficient amount of immunoglobulin, lifelong replacement therapy with serum ...
Primary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA-4 haploinsufficiency and an abnormal regulatory T-cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course ...
Symptoms of Selective IgA Deficiency including 12 medical symptoms and signs of Selective IgA Deficiency, alternative diagnoses, misdiagnosis, and correct diagnosis for Selective IgA Deficiency signs or Selective IgA Deficiency symptoms.
Bronchiectasis and deteriorating lung function in agammaglobulinaemia despite immunoglobulin replacement therapy. Stubbs A, Bangs C, Shillitoe B, Edgar JD, Burns SO, Thomas M, Alachkar H, Buckland M, McDermott E, Arumugakani G, Jolles MS, Herriot R, Arkwright PD. Clin Exp Immunol. 2017 Oct 9. 14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. Schepp J, Chou J, Skrabl-Baumgartner A, Arkwright PD, Engelhardt KR, Hambleton S, Morio T, Röther E, Warnatz K, Geha R, Grimbacher B. Front Immunol. 2017 Aug 16;8:964.. T-cell receptor αβ+ and CD19+ cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency. Shah RM, Elfeky R, Nademi Z, Qasim W, Amrolia P, Chiesa R, Rao K, Lucchini G, Silva JMF, Worth A, Barge D, Ryan D, Conn J, Cant AJ, Skinner R, Abd Hamid IJ, Flood T, Abinun M, Hambleton S, Gennery AR, Veys P, Slatter M. J Allergy Clin Immunol. 2017 Aug 3. Hematopoietic stem cell transplantation in ...
Chronic or recurrent diarrhea is common in immune-deficient persons, especially those with adult-onset or variable immunodeficiency syndrome (1-3). Chronic inflammatory lesions of the rectum, colon, or small intestine, sometimes treated with sulfasalazine or corticosteroids, have been reported in this population (1, 4-7). Campylobacter jejuni now is recognized as a common cause of diarrhea (8) and sometimes of colitis or ileitis resembling the chronic inflammatory bowel diseases (9, 10). We report the cases of two immune-deficient patients, one with chronic proctitis, who had campylobacter infections.. Patient 1: A 63-year old man had gastric achlorhydria, mild steatorrhea, and hypogammaglobulinemia (serum IgG, 119 ...
Anti-IgA antibodies are thought to be responsible for non-hemolytic transfusion reactions in one in 17,000 to one in 770,000 number of cases. This incidence is mainly supported by case reports. Despite their relative frequency of one in 18 to one in 1,250, since their discovery approximately forty years ago, the true significance of these antibodies has not yet been determined. Several specificities of these antibodies resulting in different reaction patterns make diagnosis and categorization difficult. Until recently, the lack of a fast and reliable laboratory test was a drawback. This test needed to be easily performed, fast, accurate, reproducible and accessible to many practitioners in many laboratories. The Passive Hemagglutination Assay (PHA), developed in the late 1960s, is neither precise nor reliable but easy to perform and therefore has been the mainstay in diagnosis of anti-IgA. While newer methods, such as Radio Immuno Assay (RIA) and Enzyme Linked Immunosorbent Assay (ELISA), are ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Selective IgA deficiency

What is common variable immunodeficiency (CVID)?What is common variable immunodeficiency (CVID)?

... one of the most prevalent primary immunodeficiency diseases, is a heterogeneous group of immunologic disorders of unknown ... Drugs & Diseases , Pediatrics: General Medicine , Pediatric Common Variable Immunodeficiency Q&A What is common variable ... Common variable immunodeficiency (CVID), one of the most prevalent primary immunodeficiency diseases, is a heterogeneous group ... Cellular abnormalities in common variable immunodeficiency. In: Rosen FS, Seligmann M, eds. Immunodeficiencies. Philadelphia: ...
more infohttps://www.medscape.com/answers/885935-190791/what-is-common-variable-immunodeficiency-cvid

Frontiers | Heterogeneity of Liver Disease in Common Variable Immunodeficiency Disorders | ImmunologyFrontiers | Heterogeneity of Liver Disease in Common Variable Immunodeficiency Disorders | Immunology

... is the most frequent primary immunodeficiency (PID) in adulthood and is characterized by severe reduction of immunoglobulin ... is the most frequent primary immunodeficiency (PID) in adulthood and ischaracterized by severe reduction of immunoglobulin ... Jolles S. The variable in common variable immunodeficiency: a disease of complex phenotypes. J Allergy Clin Immunol Pract. ( ... Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency (PID) in adult age and is ...
more infohttps://www.frontiersin.org/articles/10.3389/fimmu.2020.00338/full

Celiac Disease  and the Enteropathy Associated with Common Variable Immunodeficiency - Celiac.comCeliac Disease and the Enteropathy Associated with Common Variable Immunodeficiency - Celiac.com

... is the most common symptomatic primary antibody deficient syndrome, with an estimated prevalence of one in one-hundred thousand ... Celiac.com 07/09/2010 The enteropathy associated with common variable immunodeficiency (CVID) ... Celiac.com 07/09/2010 - The enteropathy associated with common variable immunodeficiency (CVID) is the most common symptomatic ... Celiac Disease and the Enteropathy Associated with Common Variable Immunodeficiency. *By Destiny Stone ...
more infohttps://www.celiac.com/articles/22202/1/Celiac-Disease--and-the-Enteropathy-Associated-with-Common-Variable-Immunodeficiency/Page1.html

Common Variable Immunodeficiency (CVID) | Health Information | MedCentral Health SystemCommon Variable Immunodeficiency (CVID) | Health Information | MedCentral Health System

What is common variable immunodeficiency (CVID)? CVID is an immunodeficiency disorder characterized by a low level of ... The symptoms of the disease are very different for each child affected, which is why it is called a variable group of disord ... Common Variable Immunodeficiency (CVID). What is common variable immunodeficiency (CVID)?. CVID is an immunodeficiency disorder ... The symptoms of the disease are very different for each child affected, which is why it is called a "variable" group of ...
more infohttp://www.medcentral.org/Main/StaywellProducts/Common-Variable-Immunodeficiency-CVID-5835.aspx

Frontiers | Follicular T Cells from smB− Common Variable Immunodeficiency Patients Are Skewed Toward a Th1 Phenotype |...Frontiers | Follicular T Cells from smB− Common Variable Immunodeficiency Patients Are Skewed Toward a Th1 Phenotype |...

Common variable immunodeficiency disease (CVID) is the commonest symptomatic primary immunodeficiency (PID) with a genetic ... Common variable immunodeficiency disease (CVID) is the commonest symptomatic primary immunodeficiency (PID) with a genetic ... infectious diseases and more recently with several monogenic immunodeficiencies. ... infectious diseases and more recently with several monogenic immunodeficiencies. ...
more infohttps://www.frontiersin.org/articles/10.3389/fimmu.2017.00174/full

Common variable immunodeficiencyCommon variable immunodeficiency

... is the most commonly diagnosed primary immunodeficiency. It is characterized by low antibody ... Common variable immunodeficiency is the most commonly diagnosed primary immunodeficiency. It is characterized by low antibody ... 106P- Common Variable Immunodeficiency, Isolated IgA Deficiency, Hyper-IgM and DiGeorge Syndrome. 127 Views ... Common Infections of T cell, B Cell, Granulocyte & Complement Deficiency. 105 Views ...
more infohttp://www.4doctors.net/watch.php?vid=eb6d97101

Altered Serum Cytokine Signature in Common Variable ImmunodeficiencyAltered Serum Cytokine Signature in Common Variable Immunodeficiency

Purpose: Common variable immunodeficiency (CVID) is the most frequent form of primary symptomatic hypogammaglobulinemia. CVID ...
more infohttps://scholars.uab.edu/display/pub778919

106P- Common Variable Immunodeficiency, Isolated IgA Deficiency, Hyper-IgM and DiGeorge Syndrome106P- Common Variable Immunodeficiency, Isolated IgA Deficiency, Hyper-IgM and DiGeorge Syndrome

Common Variable Immunodeficiency is a heterogeneous group of disorders characterized by hypogammaglobulinemia, impaired ... 106P- Common Variable Immunodeficiency, Isolated IgA Deficiency, Hyper-IgM and DiGeorge Syndrome. ... Common Variable Immunodeficiency is a heterogeneous group of disorders characterized by hypogammaglobulinemia, impaired ... The most common genetic abnormality is mutation of the gene encoding CD40L. This gene is located on the X chromosome; ...
more infohttp://www.4doctors.net/watch.php?vid=631425026

Membranous nephropathy in a 13-year-old boy with common variable immunodeficiency<...Membranous nephropathy in a 13-year-old boy with common variable immunodeficiency<...

Yim, H-E., & Yoo, K. H. (2012). Membranous nephropathy in a 13-year-old boy with common variable immunodeficiency. Journal of ... Yim, H-E & Yoo, KH 2012, Membranous nephropathy in a 13-year-old boy with common variable immunodeficiency, Journal of Korean ... Membranous nephropathy in a 13-year-old boy with common variable immunodeficiency. / Yim, Hyung-Eun; Yoo, Kee Hwan. ... Membranous nephropathy in a 13-year-old boy with common variable immunodeficiency. Journal of Korean Medical Science. 2012 Dec ...
more infohttps://koreauniv.pure.elsevier.com/en/publications/membranous-nephropathy-in-a-13-year-old-boy-with-common-variable-

Screening of functional and positional candidate genes in families with common variable immunodeficiency | BMC Immunology |...Screening of functional and positional candidate genes in families with common variable immunodeficiency | BMC Immunology |...

Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency in adults. CVID clinically ... Common variable immunodeficiency (CVID) comprises a heterogeneous group of primary antibody deficiencies with complex clinical ... In recent years, genetic linkage analysis of selective IgA deficiency (sIgAD) and common variable immunodeficiency (CVID) has ... Cunningham-Rundles C, Bodian C: Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin ...
more infohttps://bmcimmunol.biomedcentral.com/articles/10.1186/1471-2172-9-3

IVIG Diseases | Intravenous Immunoglobulin TherapyIVIG Diseases | Intravenous Immunoglobulin Therapy

Common variable immunodeficiency. *X-linked immunodeficiency with hyperimmunoglobulin M. *Wiscott-Aldrich syndrome ... Secondary Immunodeficiency Diseases *Pediatric AIDS - The late stage of the human immunodeficiency virus ... Primary Immunodeficiency Diseases - In these types of IVIG medically indicated diseases, the development and maturation of the ... Primary immunodeficiency diseases include: *Congenital agammaglobulinemia (X-linked agammaglobulinemia). *Hypogammaglobulinemia ...
more infohttp://www.americanoutcomes.com/ivig-diseases.php

G Wendell Richmond, MD | Allergy & Asthma Physicians | Hinsdale | Chicago, ILG Wendell Richmond, MD | Allergy & Asthma Physicians | Hinsdale | Chicago, IL

Richmond is a national expert in primary immune diseases such as common variable immune deficiency (CVID). He also provides ... Richmond GW, Ko H. CD5 positive B cells in common variable immunodeficiency. J Allergy Clin Immunol 1989;83:226. ... Cellular and cytokine abnormalities in common variable immunodeficiency. J Allergy Clin Immunol 1996;97:394. ... in a patient with common variable immunodeficiency (CVID) response to intravenous and intraventricular treatment with ...
more infohttp://stopsneezesandwheezes.com/G-Wendell-Richmond-MD.html

Common Variable Immune Deficiency (CVID)|Recovery|Prognosis|PreventionCommon Variable Immune Deficiency (CVID)|Recovery|Prognosis|Prevention

... coping and yoga for common variable immune deficiency (CVID). ... This article explains the recovery period for common variable ... Common variable immune deficiency (CVID) is considered as the primary type of immunodeficiency syndrome. Patients become ... Coping with Common Variable Immune Deficiency (CVID). To manage and cope with common variable immune deficiency (CVID), it is ... Recovery Period for Common Variable Immune Deficiency (CVID). There is no specific recovery period for common variable immune ...
more infohttps://www.epainassist.com/articles/common-variable-immune-deficiency-recovery-prognosis-prevention

Miss Molly BellMiss Molly Bell

Molly Bell discusses information on Common Variable Immune Deficiency and Immune disorders as she maneuvers through her own ... Common Variable Immune Deficiency (CVID) is one of the most frequently diagnosed primary immunodeficiencies, especially in ... My history with illness and common variable immune deficency and the beginning of pushing past it. ... My doctors believe its very possible that my father had CVID and it turned into Lymphoma (cancer is common in CVID patients, ...
more infohttps://www.missmollybell.com/common-variable-immune-deficiency/

Resource Links & DocumentsResource Links & Documents

Primary Immunodeficiencies A table of common immunodeficiencies suitable for downloading to your PDA. Normative Data T Cells A ... Adult hypogammaglobulinemia: CVID and thymoma Common variable immune deficiency review. The genetics and the association with ... Chromosome 22q11.2 Deletion Syndrome An overview of the second most common primary immunodeficiency. Periodic Fever Comparisons ... Immunodeficiency Canada , Immunodéficience Canada © 2017 , Designed by bigshoe , Site Admin , Email Login. Charitable Number ...
more infohttp://immunodeficiency.ca/healthcare-providers/resource-links/

Common variable immunodeficiency definition | Drugs.comCommon variable immunodeficiency definition | Drugs.com

Definition of common variable immunodeficiency. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms ... common variable immunodeficiency. Definition: immunodeficiency of unknown cause, and usually unclassifiable; usual onset after ...
more infohttps://www.drugs.com/dict/common-variable-immunodeficiency.html

Common variable immunodeficiency - WikipediaCommon variable immunodeficiency - Wikipedia

Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and low antibody levels, ... As per the criteria laid out by ESID (European Society for Immunodeficiencies) and PAGID (Pan-American Group for ... CVID is a primary immunodeficiency. Treatment options are limited, and usually include lifelong immunoglobulin replacement ... Immunodeficiency), CVID is diagnosed if: the person presents with a marked decrease of serum IgG levels (. ...
more infohttps://en.wikipedia.org/wiki/Common_variable_immunodeficiency

Stem cell transplant for common variable immunodeficiencyStem cell transplant for common variable immunodeficiency

Stem cell transplantation for patients with common variable immunodeficiency - a retrospective world-wide study of the current ... Immunodeficiency can be defined as a breakdown of the immune system. Common variable immunodeficiency (CVID) is the most ... Stem cell transplantation for patients with common variable immunodeficiency - a retrospective world-wide study of the current ... Stem cell transplantation for patients with common variable immunodeficiency ...
more infohttp://www.aaaai.org/global/latest-research-summaries/Current-JACI-Research/stem-cell-cvid

Common variable immunodeficiency - wikidocCommon variable immunodeficiency - wikidoc

Differentiating Common Variable Immunodeficiency from other Diseases. Common variable immunodeficiency should be differentiated ... Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder. CVID is the most common antibody deficiency ... Directions to Hospitals Treating Common variable immunodeficiency Risk calculators and risk factors for Common variable ... Common variable immunodeficiency. Cell-mediated (T). DiGeorge syndrome · Nezelof syndrome · Purine nucleoside phosphorylase ...
more infohttp://wikidoc.org/index.php/Common_variable_immunodeficiency

Intestinal Amyloidosis in Common Variable Immunodeficiency and Rheumatoid ArthritisIntestinal Amyloidosis in Common Variable Immunodeficiency and Rheumatoid Arthritis

... T. Meira,1 R. Sousa,1 A. Cordeiro,2 R. ... C. Cunningham-Rundles, "Autoimmune manifestations in common variable immunodeficiency," Journal of Clinical Immunology, vol. 28 ... A 66-year-old woman, with prior history of common variable immunodeficiency and rheumatoid arthritis, was referred to our ... We report an unusual case of intestinal AA amyloidosis in a patient with common variable immunodeficiency and rheumatoid ...
more infohttps://www.hindawi.com/journals/crigm/2015/405695/

Common variable immunodeficiency and autoimmunity--an inconvenient truth.  - PubMed - NCBICommon variable immunodeficiency and autoimmunity--an inconvenient truth. - PubMed - NCBI

Common variable immunodeficiency and autoimmunity--an inconvenient truth.. Xiao X1, Miao Q1, Chang C2, Gershwin ME3, Ma X4. ... Common Variable Immunodeficiency/genetics. *Common Variable Immunodeficiency/immunology*. *Common Variable Immunodeficiency/ ... The cellular alterations in combined variable immunodeficiency include a range of T and B cell abnormalities. Selective immune ... The most common autoimmune disease found in CVID patients is autoimmune cytopenia, but rheumatoid arthritis, lupus, and now ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed/24747700?access_num=24747700&link_type=MED&dopt=Abstract

Search of: Common variable immunodeficiency - List Results - ClinicalTrials.govSearch of: 'Common variable immunodeficiency' - List Results - ClinicalTrials.gov

In Patients With Common Variable Immunodeficiency. *Common Variable Immunodeficiency ... 40 Studies found for: Common variable immunodeficiency. Also searched for Common variable immune deficiency. See Search ... STA-5326 Meslylate to Treat Gut Inflammation Associated With Common Variable Immunodeficiency. *Common Variable ... Improving the Diagnosis of Common Variable Immune Deficiency. *CVI - Common Variable Immunodeficiency ...
more infohttps://clinicaltrials.gov/ct2/results?cond=%22Common+variable+immunodeficiency%22

Lymphocyte Immunophenotyping in Common Variable Immunodeficiency - Tabular View - ClinicalTrials.govLymphocyte Immunophenotyping in Common Variable Immunodeficiency - Tabular View - ClinicalTrials.gov

Investigation of the Lymphocyte Surface Expression of Patients With Primary Immunodeficiency (Common Variable Immunodeficiency ... Lymphocyte Immunophenotyping in Common Variable Immunodeficiency. The safety and scientific validity of this study is the ... Have diagnosis of Common Variable Immunodeficiency, granulomatous disease, on long term immunoglobulin or bronchiectasis. ... Lymphocyte Immunophenotyping in Common Variable Immunodeficiency. Official Title ...
more infohttps://clinicaltrials.gov/ct2/show/record/NCT01196702

Clinical and laboratory aspects of common variable immunodeficiencyClinical and laboratory aspects of common variable immunodeficiency

Common variable immunodeficiency. Humoral Immunodeficiencies. Immunol Allergy Clin North America 21: 1-22. [ Links ]. WITTE T, ... Common Variable Immunodeficiency (CVID) is one of the most frequent primary immunodeficiencies diagnosed in humans, its ... Failure of primary and secondary T cell responses in common variable immunodeficiency. Immunodeficiency 4: 13-14. [ Links ]. ... Study of B and T cell phenotypes in blood from patients with common variable immunodeficiency (CVID). Immunodeficiency 5: 159- ...
more infohttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652004000400007&tlng=es&lng=en&nrm=iso

Common Variable Immunodeficiency
     Summary Report | CureHunterCommon Variable Immunodeficiency Summary Report | CureHunter

Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell ... Common Variable; Hypogammaglobulinemias, Acquired; Hypogammaglobulinemias, Common Variable; Immunodeficiencies, Common Variable ... Variable Hypogammaglobulinemia, Common; Variable Hypogammaglobulinemias, Common; Immunodeficiency, Common Variable ... Common Variable Immunodeficiency. Subscribe to New Research on Common Variable Immunodeficiency Heterogeneous group of ...
more infohttp://www.curehunter.com/public/keywordSummaryD017074-Common-Variable-Immunodeficiency.do
  • Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? (medscape.com)
  • Childhood common variable immunodeficiency with autoimmune disease. (medscape.com)
  • Cunningham-Rundles C. Autoimmune manifestations in common variable immunodeficiency. (medscape.com)
  • Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. (medscape.com)
  • The loss of IgM memory B cells correlates with clinical disease in common variable immunodeficiency. (medscape.com)
  • Chronic diarrhea was observed as the most common gastrointestinal symptom with a rate of 92% of the patients studied. (celiac.com)
  • Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects. (medscape.com)
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