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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

RAG mutations in human B cell-negative SCID.

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.[1]


  1. RAG mutations in human B cell-negative SCID. 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. Science (1996) [Pubmed]
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