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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Common variable immunodeficiency


Other Names for this Disease
  • Common variable hypogamma-globulinemia
  • CVID
  • Hypogamma-globulinemia, acquired
  • Immunoglobulin deficiency, late-onset
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Cause


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What causes common variable immunodeficiency (CVID)?

Common variable immunodeficiency is likely caused by a variety of factors. [1]  Approximately 10-20% of individuals with this condition have a known genetic cause. [2]  In most of these cases, common variable immunodeficiency is caused by mutations in the TAC1 gene.  This gene provides instructions that help B cells in the immune system to make antibodies. [3]  In a small percentage of cases, a mutation has been found in other genes that help B cells and T cells of the immune system to function properly, including the ICOS, CD19, or BAFFR genes.  In 80% of people with common variable immunodeficiency, the cause is unknown. [2]
Last updated: 10/25/2010

References
  1. Schwartz RA, Modak RM, Modak P. Common Variable Immunodeficiency. eMedicine. March 16, 2010; http://emedicine.medscape.com/article/1051103-overview. Accessed 10/12/2010.
  2. Scharenberg, Andrew et al.. Common Variable Immune Deficiency Overview. GeneReviews. July 5, 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=cvid. Accessed 10/12/2010.
  3. Lee JJ, Ozcan E, Rauter I, Geha R. Transmembrane activator and calcium-modulator and cyclophilin ligand interactor mutations in common variable immunodeficiency. Current Opinion in Allergy and Clinical Immunology. 2008;