RAG mutations in human B cell-negative SCID

Klaus Schwarz, George H. Gauss, Leopold Ludwig, Ulrich Pannicke, Zhong Li, Doris Lindner, Wilhelm Friedrich, Reinhard A. Seger, Thomas E. Hansen-Hagge, Stephen Desiderio, Michael R. Lieber, Claus R. Bartram

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)97-99
Number of pages3
JournalScience
Volume274
Issue number5284
DOIs
StatePublished - 1996

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Severe Combined Immunodeficiency
B-Lymphocytes
Mutation
Genetic Recombination
RAG-1 Genes
Recombinases
Antigen Receptors

ASJC Scopus subject areas

  • General

Cite this

Schwarz, K., Gauss, G. H., Ludwig, L., Pannicke, U., Li, Z., Lindner, D., ... Bartram, C. R. (1996). RAG mutations in human B cell-negative SCID. Science, 274(5284), 97-99. https://doi.org/10.1126/science.274.5284.97

RAG mutations in human B cell-negative SCID. / Schwarz, Klaus; Gauss, George H.; Ludwig, Leopold; Pannicke, Ulrich; Li, Zhong; Lindner, Doris; Friedrich, Wilhelm; Seger, Reinhard A.; Hansen-Hagge, Thomas E.; Desiderio, Stephen; Lieber, Michael R.; Bartram, Claus R.

In: Science, Vol. 274, No. 5284, 1996, p. 97-99.

Research output: Contribution to journalArticle

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 1996, 'RAG mutations in human B cell-negative SCID', Science, vol. 274, no. 5284, pp. 97-99. https://doi.org/10.1126/science.274.5284.97
Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D et al. RAG mutations in human B cell-negative SCID. Science. 1996;274(5284):97-99. https://doi.org/10.1126/science.274.5284.97
Schwarz, Klaus ; Gauss, George H. ; Ludwig, Leopold ; Pannicke, Ulrich ; Li, Zhong ; Lindner, Doris ; Friedrich, Wilhelm ; Seger, Reinhard A. ; Hansen-Hagge, Thomas E. ; Desiderio, Stephen ; Lieber, Michael R. ; Bartram, Claus R. / RAG mutations in human B cell-negative SCID. In: Science. 1996 ; Vol. 274, No. 5284. pp. 97-99.
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AU - Ludwig, Leopold

AU - Pannicke, Ulrich

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AU - Lindner, Doris

AU - Friedrich, Wilhelm

AU - Seger, Reinhard A.

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AU - Desiderio, Stephen

AU - Lieber, Michael R.

AU - Bartram, Claus R.

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