Common variable immunodeficiency

Definition:

There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (c) CVID, also called acquired hypogammaglobulinemia, adult-onset hypogammaglobulinemia, or dysgammaglobulinemia, is a heterogeneous group of disorders involving both B-cell and T-cell immune function, the predominant manifestation of which is hypogammaglobulinemia. CVID is characterized by recurrent bacterial infections, decreased serum Ig levels, and abnormal antibody responses. The mutated genes that produce the CVID phenotype are known only for a minority of patients, and they are diverse in their influence on immune function. Homozygous mutations in ICOS are clearly the cause of disease. Heterozygous mutations in the TNF receptor family member TACI (transmembrane activator and calcium-modulating cyclophilin ligand interactor) can be found in up to 10% of patients with CVID.

References:

[1]. Bodo Grimbacher, et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol. 2003 Mar;4(3):261-8. [Content Brief]

[2]. Elisabeth Salzer, et al. Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency. J Allergy Clin Immunol. 2014 Jun;133(6):1651-9.e12. [Content Brief]

[3]. Emanuela Castigli, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005 Aug;37(8):829-34. [Content Brief]

[4]. Frederick D Goldman, et al. Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the Ikaros gene. Pediatr Blood Cancer. 2012 Apr;58(4):591-7. [Content Brief]

[5]. Jens Thiel, et al. Genetic CD21 deficiency is associated with hypogammaglobulinemia. J Allergy Clin Immunol. 2012 Mar;129(3):801-810.e6. [Content Brief]

[6]. Joon H Park, et al. Perspectives on common variable immune deficiency. Ann N Y Acad Sci. 2011 Dec;1246:41-9. [Content Brief]

[7]. Karin Chen, et al. Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet. 2013 Nov 7;93(5):812-24. [Content Brief]

[8]. Klaus Warnatz, et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13945-50. [Content Brief]

[9]. Louis-Marie Charbonnier, et al. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol. 2015 Jan;135(1):217-27. [Content Brief]

[10]. Manfred Fliegauf, et al. Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. Am J Hum Genet. 2015 Sep 3;97(3):389-403. [Content Brief]

[11]. Massimo Morra, et al. Genetic diagnosis of primary immune deficiencies. Immunol Allergy Clin North Am. 2008 May;28(2):387-412, x. [Content Brief]

[12]. Menno C van Zelm, et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med. 2006 May 4;354(18):1901-12. [Content Brief]

[13]. Menno C van Zelm, et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest. 2010 Apr;120(4):1265-74. [Content Brief]

[14]. Michael D Keller, et al. Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. J Allergy Clin Immunol. 2016 Aug;138(2):544-550.e4. [Content Brief]

[15]. Raif S Geha, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007 Oct;120(4):776-94. [Content Brief]

[16]. Taco W Kuijpers, et al. CD20 deficiency in humans results in impaired T cell-independent antibody responses. J Clin Invest. 2010 Jan;120(1):214-22. [Content Brief]

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