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PMID: 8810255 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

RAG mutations in human B cell-negative SCID.

Science (New York, N.Y.) ·Vol. 274 ·No. 5284 ·1996-10-04 ·Pages 97-9

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

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.

MeSH Terms

B-Lymphocytes/immunology Cell Line Consanguinity DNA-Binding Proteins Female Genes, Immunoglobulin Genes, Recessive Homeodomain Proteins Humans Immunophenotyping Male Mutation Nuclear Proteins Polymorphism, Single-Stranded Conformational Proteins/genetics Receptors, Antigen, T-Cell/genetics Recombination, Genetic Sequence Deletion Severe Combined Immunodeficiency/genetics,immunology Transfection

Chemicals

DNA-Binding Proteins Homeodomain Proteins Nuclear Proteins Proteins RAG2 protein, human Receptors, Antigen, T-Cell V(D)J recombination activating protein 2 RAG-1 protein

Authors & Affiliations

12 authors, click to expand affiliations / ORCID

Schwarz K

Section of Molecular Biology, University of Ulm, D-89070 Ulm, Germany.

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

Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

0036-8075

DOI

10.1126/science.274.5284.97

Published

1996-10-04

Pages

97-9

Language

English

Region

United States

NLM ID

0404511

Subset

External Links

PubMed source DOI: 10.1126/science.274.5284.97 View journal details

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RAG mutations in human B cell-negative SCID.

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