RAG Mutations in Human B Cell-Negative SCID
- 4 October 1996
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 274 (5284) , 97-99
- https://doi.org/10.1126/science.274.5284.97
Abstract
Patients with human severe combined immunodeficiency (SCID) can be divided into those with B lymphocytes (B+ SCID) and those without (B− SCID). Although several genetic causes are known for B+ SCID, the etiology of B− SCID has not been defined. Six of 14 B− SCID patients tested were found to carry a mutation of the recombinase activating gene 1 (RAG-1), RAG-2, or both. This mutation resulted in a functional inability to form antigen receptors through genetic recombination and links a defect in one of the site-specific recombination systems to a human disease.Keywords
This publication has 29 references indexed in Scilit:
- Mutation of Jak3 in a Patient with SCID: Essential Role of Jak3 in Lymphoid DevelopmentScience, 1995
- Defective T cell receptor signaling and CD8+ thymic selection in humans lacking Zap-70 kinaseCell, 1994
- Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)Cell, 1993
- Regulation of V(D)J Recombination Activator Protein RAG-2 by PhosphorylationScience, 1993
- Independent mutations of the human CD3–ε gene resulting in a T cell receptor/CD3 complex immunodeficiencyNature Genetics, 1993
- RAG-1-deficient mice have no mature B and T lymphocytesCell, 1992
- Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus.The Journal of Experimental Medicine, 1991
- RAG-1 and RAG-2, Adjacent Genes That Synergistically Activate V(D)J RecombinationScience, 1990
- Severe Combined Immunodeficiency Due to a Specific Defect in the Production of Interleukin-2New England Journal of Medicine, 1990
- The V(D)J recombination activating gene, RAG-1Cell, 1989