Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Severe combined immunodeficiency


Other Names for this Disease

  • Bubble boy disease
  • SCID
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

Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. Due to recurrent infections, affected children do not grow and gain weight as expected (failure to thrive). SCID may be caused by mutations in any of several genes and can be inherited in an X-linked recessive (most commonly) or autosomal recessive manner. The most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person. Without treatment, affected children rarely live past the age of two.[1]
Last updated: 5/27/2014

References

  1. Learning About Severe Combined Immunodeficiency (SCID). NHGRI. December 27, 2013; http://www.genome.gov/13014325. Accessed 5/27/2014.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Severe combined immunodeficiency have been answered. See questions and answers. You can also submit a new question.

Basic Information

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 Severe combined immunodeficiency. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Insurance Issues

Other Names for this Disease
  • Bubble boy disease
  • SCID
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.