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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5284
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pubmed:dateCreated |
1996-10-24
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/RAG-1 protein,
http://linkedlifedata.com/resource/pubmed/chemical/RAG2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Antigen, T-Cell,
http://linkedlifedata.com/resource/pubmed/chemical/V(D)J recombination activating...
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0036-8075
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pubmed:author |
pubmed-author:BartramC RCR,
pubmed-author:DesiderioSS,
pubmed-author:FriedrichWW,
pubmed-author:GaussG HGH,
pubmed-author:Hansen-HaggeT ETE,
pubmed-author:LieberM RMR,
pubmed-author:LindnerDD,
pubmed-author:LudwigLL,
pubmed-author:MASS,
pubmed-author:PannickeUU,
pubmed-author:SchwarzKK,
pubmed-author:SegerR ARA
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pubmed:issnType |
Print
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pubmed:day |
4
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pubmed:volume |
274
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
97-9
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pubmed:dateRevised |
2007-3-19
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pubmed:meshHeading |
pubmed-meshheading:8810255-B-Lymphocytes,
pubmed-meshheading:8810255-Cell Line,
pubmed-meshheading:8810255-Consanguinity,
pubmed-meshheading:8810255-DNA-Binding Proteins,
pubmed-meshheading:8810255-Female,
pubmed-meshheading:8810255-Genes, Immunoglobulin,
pubmed-meshheading:8810255-Genes, Recessive,
pubmed-meshheading:8810255-Homeodomain Proteins,
pubmed-meshheading:8810255-Humans,
pubmed-meshheading:8810255-Immunophenotyping,
pubmed-meshheading:8810255-Male,
pubmed-meshheading:8810255-Mutation,
pubmed-meshheading:8810255-Nuclear Proteins,
pubmed-meshheading:8810255-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:8810255-Proteins,
pubmed-meshheading:8810255-Receptors, Antigen, T-Cell,
pubmed-meshheading:8810255-Recombination, Genetic,
pubmed-meshheading:8810255-Sequence Deletion,
pubmed-meshheading:8810255-Severe Combined Immunodeficiency,
pubmed-meshheading:8810255-Transfection
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pubmed:year |
1996
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pubmed:articleTitle |
RAG mutations in human B cell-negative SCID.
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pubmed:affiliation |
Section of Molecular Biology, University of Ulm, D-89070 Ulm, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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