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

doi:10.1126/science.274.5284.97

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

396 Scopus citations

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 language	English (US)
Pages (from-to)	97-99
Number of pages	3
Journal	Science
Volume	274
Issue number	5284
DOIs	https://doi.org/10.1126/science.274.5284.97
State	Published - 1996

ASJC Scopus subject areas

General

Access to Document

10.1126/science.274.5284.97

Cite this

@article{79460ad83a1443f9bb2bc9cc4d74ef91,

title = "RAG mutations in human B cell-negative SCID",

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.",

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

year = "1996",

doi = "10.1126/science.274.5284.97",

language = "English (US)",

volume = "274",

pages = "97--99",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "5284",

}

TY - JOUR

T1 - RAG mutations in human B cell-negative SCID

AU - Schwarz, Klaus

AU - Gauss, George H.

AU - Ludwig, Leopold

AU - Pannicke, Ulrich

AU - Li, Zhong

AU - Lindner, Doris

AU - Friedrich, Wilhelm

AU - Seger, Reinhard A.

AU - Hansen-Hagge, Thomas E.

AU - Desiderio, Stephen

AU - Lieber, Michael R.

AU - Bartram, Claus R.

PY - 1996

Y1 - 1996

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=10144253125&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=10144253125&partnerID=8YFLogxK

U2 - 10.1126/science.274.5284.97

DO - 10.1126/science.274.5284.97

M3 - Article

C2 - 8810255

AN - SCOPUS:10144253125

SN - 0036-8075

VL - 274

SP - 97

EP - 99

JO - Science

JF - Science

IS - 5284

ER -

RAG mutations in human B cell-negative SCID

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this