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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
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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]
References
- X-linked severe combined immunodeficiency. Genetic Home Reference. http://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency. Accessed August 8, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information CenterPlease contact us with your questions about X-linked severe combined immunodeficiency. We will answer your question and update these pages with new resources and information.
General 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. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss X-linked severe combined immunodeficiency. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Simons, E. Gene Therapy of X-Linked Severe Combined Immunodeficiency by Use of a Pseudotyped Gammaretroviral Vector. Pediatrics 2006; 118: S48-S49.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.