A service of the
U.S. National Library of Medicine®
These sources were used to develop the Genetics Home Reference
Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625-55. Review.
Gene Review: X-Linked Severe Combined
Kalman L, Lindegren ML, Kobrynski L, Vogt R, Hannon H, Howard JT, Buckley R. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genet Med. 2004 Jan-Feb;6(1):16-26. Review.
Lebet T, Chiles R, Hsu AP, Mansfield ES, Warrington JA, Puck JM. Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genet Med. 2008 Aug;10(8):575-85. doi: 10.1097GIM.0b013e31818063bc.
Schmalstieg FC, Goldman AS. Immune consequences of mutations in the human common gamma-chain gene. Mol Genet Metab. 2002 Jul;76(3):163-71. Review.
: May 2009
: July 27, 2015
Lister Hill National Center for Biomedical
U.S. National Library of
National Institutes of
Department of Health & Human
Freedom of Information
Indicates a page outside Genetics Home Reference.
Links to web sites outside the Federal Government do not constitute an endorsement.
Selection Criteria for Web Links
This site complies with the
for trustworthy health information: