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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is common variable immunodeficiency (CVID)?

What causes common variable immunodeficiency (CVID)?

How might common variable immunodeficiency be treated? 

What is common variable immunodeficiency (CVID)?

Common variable immunodeficiency (CVID) is a group of disorders in which the immune system cannot make antibodies in response to foreign substances that cause infection. The main feature that separates CVID from other immunodeficiencies is low levels of two specific antibodies, immunoglobulin A (IgA) and immunoglobulin G (IgG). People with CVID get more frequent infections, particularly in the sinuses, lungs, and digestive tract.[1][2] Symptoms most commonly begin in early adulthood, but have been found in children as young as age two. While in most cases the cause of CVID is unknown, the condition has been associated with mutations in at least 10 genes.[3] About 10% of affected people have mutations in the TNFRSF13B gene.[3] The main treatment for CVID is Ig replacement therapy, which stops the cycle of recurrent infections.[4]
Last updated: 9/15/2014

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.[3] 

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.[3]
Last updated: 9/15/2014

How might common variable immunodeficiency be treated? 

The mainstay of treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections.[4] Affected people need to regularly receive this therapy to support their immune system.[5]

Detailed information about the management of CVID can be viewed on Medscape Reference's Web site.
Last updated: 9/15/2014

References
  1. Primary Immunodeficiency. National Institute of Child Health and Human Development (NICHD) . April 7, 2008; http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#WhatisPrimaryImmunodeficiency. Accessed 10/12/2010.
  2. Schwartz RA, Modak RM, Modak P. Common Variable Immunodeficiency. eMedicine. March 16, 2010; http://emedicine.medscape.com/article/1051103-overview. Accessed 10/12/2010.
  3. Common variable immune deficiency. Genetics Home Reference. July, 2014; http://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency. Accessed 9/15/2014.
  4. Robert A Schwartz. Common Variable immunodeficiency. Medscape Reference. May 27, 2014; http://emedicine.medscape.com/article/1051103-overview. Accessed 9/15/2014.
  5. Frequently Asked Questions. Primary Immunodeficiency Resource Center. http://www.info4pi.org/aboutPI/index.cfm?Section=aboutPI&content=faq&CFID=35047926&CFTOKEN=43348784#499. Accessed 10/12/2010.


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.