Publication Date:
1996-10-04
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉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 -- New York, N.Y. -- Science. 1996 Oct 4;274(5284):97-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Section of Molecular Biology, University of Ulm, D-89070 Ulm, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8810255" target="_blank"〉PubMed〈/a〉
Keywords:
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
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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