DOI: 10.1126/science.274.5284.97. RAG Mutations in Human B Cell-Negative SCID

RAG Mutations in Human B Cell-Negative SCID

10.1126/science.274.5284.97

Crossref journal-article

American Association for the Advancement of Science (AAAS)

Science (221)

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.

Bibliography

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), 97â99.

Authors 12

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

References 32 Referenced 441

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Dates

Type	When
Created	23 years, 1 month ago (July 27, 2002, 5:50 a.m.)
Deposited	1 year ago (Aug. 7, 2024, 7:43 a.m.)
Indexed	2 months ago (July 4, 2025, 12:14 a.m.)
Issued	28 years, 11 months ago (Oct. 4, 1996)
Published	28 years, 11 months ago (Oct. 4, 1996)
Published Print	28 years, 11 months ago (Oct. 4, 1996)

Funders 0

None

BibTeX

@article{Schwarz_1996, title={RAG Mutations in Human B Cell-Negative SCID}, volume={274}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.274.5284.97}, DOI={10.1126/science.274.5284.97}, number={5284}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Schwarz, Klaus and Gauss, George H. and Ludwig, Leopold and Pannicke, Ulrich and Li, Zhong and Lindner, Doris and Friedrich, Wilhelm and Seger, Reinhard A. and Hansen-Hagge, Thomas E. and Desiderio, Stephen and Lieber, Michael R. and Bartram, Claus R.}, year={1996}, month=oct, pages={97–99} }

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  ],
  "URL": "http://dx.doi.org/10.1126/science.274.5284.97",
  "relation": {},
  "ISSN": [
    "0036-8075",
    "1095-9203"
  ],
  "subject": [],
  "container-title-short": "Science",
  "published": {
    "date-parts": [
      [
        1996,
        10,
        4
      ]
    ]
  }
}