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Diseases

Genetic and Rare Diseases Information Center (GARD)

Complement component 2 deficiency


Other Names for this Disease
  • Immunodeficiency due to a C1, C4, or C2 component complement deficiency
  • Immunodeficiency due to an early component of complement deficiency
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Overview

Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion.[1]
Last updated: 9/24/2015

References

  1. Complement Component 2 Deficiency. Genetics Home Reference. June 2014; http://ghr.nlm.nih.gov/condition/complement-component-2-deficiency. Accessed 9/24/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Complement component 2 deficiency. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Other Names for this Disease
  • Immunodeficiency due to a C1, C4, or C2 component complement deficiency
  • Immunodeficiency due to an early component of complement 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.