Article
RAG mutations in human B cell-negative SCID.
Science (New York, N.Y.) - 4 Oct 1996
Schwarz K, Gauss G H, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger R A, Hansen-Hagge T E, Desiderio S, Lieber M R, Bartram C R
Abstract excerpt
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...
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