Common Variable Immunodeficiency
National Organization for Rare Disorders, Inc.
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.
- Acquired Hypogammaglobulinemia
- Common Variable Hypogammaglobulinemia
- Late-Onset Immunoglobulin Deficiency
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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Immune Deficiency Foundation
40 West Chesapeake Avenue
Towson, MD 21204
NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
International Patient Organization for Primary Immunodeficiencies
Cornwall, PL11 3LE
Tel: 44 1503 250 668
Fax: 44 1503 250 668
Jeffrey Modell Foundation
747 Third Avenue
New York, NY 10017
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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
Tel: +31 73-6992965
Fax: +31 73-6992948
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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