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) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.