X-linked severe combined immunodeficiency
Other Names for this Disease
- X-linked SCID
- Severe combined immunodeficiency, X-linked
- SCID, X-linked
- Severe combined immunodeficiency T- B+ due to gamma chain deficiency
- Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative
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immune system. Signs and symptoms often become apparent in early infancy and include failure to thrive; oral/diaper candidiasis (yeast infection); absent tonsils and lymph nodes; recurrent, persistent infections; rashes; diarrhea; fevers; and pneumonia. X-SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner; it only affects males. The condition is typically fatal in the first two years of life unless treated with a bone marrow transplant or gene therapy.X-linked severe combined immunodeficiency (X-SCID) is a severe, genetic condition of the
Last updated: 5/28/2014
- X-linked severe combined immunodeficiency. Genetics Home Reference. 2009; http://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency. Accessed 8/8/2011.
- Eric Allenspach, David J Rawlings, and Andrew M Scharenberg. X-Linked Severe Combined Immunodeficiency. GeneReviews. January 24, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1410/. Accessed 5/28/2014.
- 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.
- 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.
- 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.
- Simons, E. Gene Therapy of X-Linked Severe Combined Immunodeficiency by Use of a Pseudotyped Gammaretroviral Vector. Pediatrics 2006; 118: S48-S49.