Common Variable Immunodeficiency

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Common Variable Immunodeficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Acquired Hypogammaglobulinemia
  • Common Variable Hypogammaglobulinemia
  • CVI
  • CVID
  • Late-Onset Immunoglobulin Deficiency

Disorder Subdivisions

  • None

General Discussion

Common Variable Immunodeficiency (CVI) is a group of rare genetic (primary) immunodeficiency disorders in which abnormalities in immune cell development (maturation) result in a decreased ability to appropriately produce antibodies in response to invading microorganisms, toxins, or other foreign substances. The symptoms of CVI usually become apparent during the second to the fourth decade of life.

The term "Common Variable Immunodeficiency" is used to designate an immune defect in which there is a substantial reduction of the level of immunizing agents (immunoglobulins) in the fluid portion of the blood (serum). According to the medical literature, most individuals with CVI share common, distinctive symptoms and physical findings (phenotype) due to decreased levels of all major classes of immunoglobulins in blood serum (panhypogammaglobulinemia). Defective production of certain antibodies in response to invading microorganisms (antibody deficiency) and recurrent bacterial infections are also characteristic of CVI. Such infections often affect the upper and lower respiratory tracts and the gastrointestinal (digestive) system.

In some cases, individuals with Common Variable Immunodeficiency have an increased tendency to develop certain diseases characterized by abnormal tissue growths (neoplasms) that may be benign or malignant. In addition, some individuals with CVI may have an unusual susceptibility to certain autoimmune diseases. These disorders occur when the body's natural defenses against invading microorganisms mistakenly attack healthy tissue. The range and severity of symptoms and findings associated with CVI may vary from case to case.

It is thought that Common Variable Immunodeficiency may result from a combination of genetic defects or from different disease genes (heterogenous). In many cases, there is no clear pattern of inheritance. However, in successive generations of some affected families (kindreds), there is evidence that CVI may be inherited as an autosomal recessive genetic trait. In addition, a rare acquired form of the disorder has been described in the medical literature.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Immune Deficiency Foundation
40 West Chesapeake Avenue
Suite 308
Towson, MD 21204
Tel: (410)321-6647
Fax: (410)321-9165
Tel: (800)296-4433
Email: idf@primaryimmune.org
Internet: http://www.primaryimmune.org

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

International Patient Organization for Primary Immunodeficiencies
Firside
Main Road
Downderry
Cornwall, PL11 3LE
United Kingdom
Tel: 44 1503 250 668
Fax: 44 1503 250 668
Email: david@ipopi.org
Internet: http://www.ipopi.org/

Jeffrey Modell Foundation
747 Third Avenue
34th Floor
New York, NY 10017
USA
Tel: (212)819-0200
Fax: (212)764-4180
Tel: (866)469-6474
Email: info@jmfworld.org
Internet: http://www.info4pi.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

European Society for Immunodeficiencies (ESID)
c/o Dr. Bodo Grimbacher (ESID Board Member)
Division of Rheumatology and Clinical Immunology
Department of Medicine, University Hospital Freiburg
Hugstetter Strasse 55
Freiburg, D-79106
Germany
Tel: +31 73-6992965
Fax: +31 73-6992948
Email: info@esid.org
Internet: http://www.esid.org

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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