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Genetic and Rare Diseases Information Center (GARD)

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X-linked severe combined immunodeficiency


Other Names for this Disease
  • SCID, X-linked
  • SCIDX
  • SCIDX1
  • Severe combined immunodeficiency T- B+ due to gamma chain deficiency
  • Severe combined immunodeficiency T- B+, X-linked
More Names
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Overview


X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system.[1] It almost always affects boys. Signs and symptoms include severe, recurring infections, chronic diarrhea, skin rashes, and slow growth.[1] Without treatment, people with this condition usually do not live past infancy. It is caused by mutations in the IL2RG gene. It is inherited in an X-linked recessive fashion.[1]
Last updated: 8/10/2011

References

  1. X-linked severe combined immunodeficiency. Genetics Home Reference. 2009; http://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency. Accessed 8/8/2011.
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Basic Information

  • The American Society of Gene & Cell Therapy provides information on the treatment of immunodeficiency diseases.
  • Genetics Home Reference (GHR) contains information on X-linked severe combined immunodeficiency. This website is maintained by the National Library of Medicine.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked severe combined immunodeficiency. Click on the link to view a sample search on this topic.

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