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


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
Issue number5284
StatePublished - Oct 15 1996


ASJC Scopus subject areas

  • General

Cite this

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. (1996). RAG mutations in human B cell-negative SCID. Science, 274(5284), 97-99. https://doi.org/10.1126/science.274.5284.97