Immunodeficiency, common variable, 1

Common Name(s)

Immunodeficiency, common variable, 1

Common variable immunodeficiency (CVID) is a clinically and genetically heterogeneous group of disorders characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections, and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B cells are usually in the normal range, but can be low. Most individuals with CVID have onset of infections after age 10 years. CVID represents the most common form of primary immunodeficiency disorders and is the most common form of primary antibody deficiency. Approximately 10 to 20% of patients with a diagnosis of CVID have a family history of the disorder (reviews by {2:Chapel et al., 2008}, {4:Conley et al., 2009}, and {25:Yong et al., 2009}). Genetic Heterogeneity of Common Variable Immunodeficiency Common variable immunodeficiency is a genetically heterogeneous disorder. See also CVID2 ({240500}), caused by mutation in the TACI gene (TNFRSF13B; {604907}); CVID3 ({613943}), caused by mutation in the CD19 gene ({107265}); CVID4 ({613494}), caused by mutation in the BAFFR gene (TNFRSF13C; {606269}); CVID5 ({613495}), caused by mutation in the CD20 gene ({112210}); CVID6 ({613496}), caused by mutation in the CD81 gene ({186845}); CVID7 ({614699}), caused by mutation in the CD21 gene (CR2; {120650}); CVID8 ({614700}), caused by mutation in the LRBA gene ({606453}); CVID9 ({615559}), caused by mutation in the PRKCD gene ({176977}); and CVID10 ({615577}), caused by mutation in the NFKB2 gene ({164012}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Immunodeficiency, common variable, 1" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases
 

Status: Recruiting

Condition Summary: Primary Immune Deficiency Disorders; Common Variable Immunodeficiency; X-linked Agammaglobulinaemia; Hyper-IgM Syndrome

 

Last Updated: 7 Apr 2014

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Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies
 

Status: Recruiting

Condition Summary: Severe Combined Immunodeficiency; Omenn's Syndrome; Reticular Dysgenesis; Wiskott-Aldrich Syndrome; Bare Lymphocyte Syndrome; MHC Class II Deficiency; Common Variable Immunodeficiency; Chronic Granulomatous Disease; CD40 Ligand Deficiency; Hyper IgM Syndrome; X-linked Lymphoproliferative Disease; Hemophagocytic Lymphohistiocytosis; Combined Immune Deficiencies; Griscelli Syndrome; Chediak-Higashi Syndrome; Langerhan's Cell Histiocytosis

 

Last Updated: 9 Oct 2013

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