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RAG mutations in human B cell-negative SCID.

Authors: Schwarz, K  Gauss, GH  Ludwig, L  Pannicke, U  Li, Z  Lindner, D  Friedrich, W  Seger, RA  Hansen-Hagge, TE  Desiderio, S  Lieber, MR  Bartram, CR 
Citation: Schwarz K, etal., Science. 1996 Oct 4;274(5284):97-9.
Pubmed: (View Article at PubMed) PMID:8810255

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.


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RGD Object Information
RGD ID: 1599402
Created: 2007-02-01
Species: All species
Last Modified: 2007-02-01
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.