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Diseases

Genetic and Rare Diseases Information Center (GARD)

Common variable immunodeficiency


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

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What causes common variable immunodeficiency (CVID)?

Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown.[1]

Genetic factors associated with CVID include mutations in genes involved in the development and function of immune system cells (B cells) which help protect against infection. B cells make proteins called antibodies (also known as immunoglobulins), which attach to foreign agents and "mark" them to be destroyed. Mutations in genes associated with CVID result in B cells that don't make enough antibodies. This causes difficulty fighting infections, causing the signs and symptoms of CVID.[1]

Mutations in at least 10 genes have been associated with CVID. About 10% of affected people have mutations in the TNFRSF13B gene.[1] However, not all people who inherit a mutation associated with CVID develop the disease. This is why additional genetic and/or environmental factors are probably needed for the disorder to occur.[1]

While CVID usually occurs in people with no family history of the condition, some cases are inherited in an autosomal dominant or autosomal recessive manner. 
Last updated: 3/14/2016

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


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