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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Common variable immunodeficiency


Other Names for this Disease

  • Combined variable immune deficiency
  • Common variable hypogamma-globulinemia
  • Common variable immune deficiency
  • CVID
  • Hypogamma-globulinemia, acquired
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Cause

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What causes common variable immunodeficiency (CVID)?

Common variable immunodeficiency (CVID) is thought to result from a combination of genetic and environmental factors, including mutations in genes that are important for the development and function of immune system cells called B cells. B cells help protect the body against infection. Mature B cells produce proteins called antibodies (also known as immunoglobulins), which attach to foreign particles and mark them for destruction. Mutations in the genes associated with CVID result in abnormal B cells that do not make enough antibodies. This shortage of antibodies makes it difficult to fight off infections, causing the signs and symptoms of CVID.[1] 

In most cases of CVID, the exact underlying cause is unknown. However, mutations in at least 10 genes have been associated with CVID with about 10% of affected people having mutations in the TNFRSF13B gene. The condition is usually sporadic (occurring in people with no history of CVID in the family), but some cases are inherited in an autosomal dominant or autosomal recessive manner. Not all people who inherit a mutation associated with CVID develop the disease; this is why additional genetic or environmental factors are probably needed for the disorder to occur.[1]
Last updated: 9/15/2014

References
  1. Common variable immune deficiency. Genetics Home Reference. July, 2014; http://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency. Accessed 9/15/2014.


Other Names for this Disease
  • Combined variable immune deficiency
  • Common variable hypogamma-globulinemia
  • Common variable immune deficiency
  • CVID
  • Hypogamma-globulinemia, acquired
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.