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Common variable immunodeficiency

Disease ID:488
Name:Common variable immunodeficiency
Associated with:3 targets
CVID is a group of genetically heterogeneous primary immunodeficiencies. Whilst a small number of cases can be linked to deficiency in a single gene (see the OMIM links as examples), the cause is likely to be polygenic in the majority of cases. Symptoms vary between patients, but CVID is generally characterised by a failure to produce antibodies (hypogammaglobulinemia) and therefore susceptibility to recurrent infections and inflammation (including autoimmunity).
Database Links
Disease Ontology: DOID:12177
OMIM: 613495, 607594, 606453, 240500, 613493
Orphanet: ORPHA1572


Role:  Heterozygous, homozygous, or compound heterozygous mutations in the TNFRSF13B gene have been identified as causing common variable immunodeficiency type 2 (CVID2).
Comments:  See OMIM: 240500
References:  1,4
CD20 (membrane-spanning 4-domains, subfamily A, member 1)
References:  3
ICOS (CD278)
Role:  Homozygous mutation in the ICOS gene is known to cause common variable immunodeficiency type 1 (CVID1; OMIM: 607594).
References:  2,5


No ligand related data available for Common variable immunodeficiency


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1. Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, Geha RS. (2005) TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet, 37 (8): 829-34. [PMID:16007086]

2. Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Dräger R, Eibel H, Fischer B, Schäffer AA, Mages HW et al.. (2003) Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol, 4 (3): 261-8. [PMID:12577056]

3. Kuijpers TW, Bende RJ, Baars PA, Grummels A, Derks IA, Dolman KM, Beaumont T, Tedder TF, van Noesel CJ, Eldering E et al.. (2010) CD20 deficiency in humans results in impaired T cell-independent antibody responses. J Clin Invest, 120 (1): 214-22. [PMID:20038800]

4. Salzer U, Chapel HM, Webster AD, Pan-Hammarström Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schäffer AA et al.. (2005) Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet, 37 (8): 820-8. [PMID:16007087]

5. Salzer U, Maul-Pavicic A, Cunningham-Rundles C, Urschel S, Belohradsky BH, Litzman J, Holm A, Franco JL, Plebani A, Hammarstrom L et al.. (2004) ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol, 113 (3): 234-40. [PMID:15507387]