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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2007-12-24
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pubmed:abstractText |
Hypomorphic mutations of the RAG genes in humans are associated with a spectrum of clinical and immunologic presentations that range from T(-) B(-) severe combined immune deficiency (SCID) to Omenn syndrome. In most cases, residual V(D)J recombination activity allows for development of few T-cell clones, which expand in the periphery and infiltrate target organs, resulting in tissue damage. Invariant natural killer T (iNKT) cells play an important immunoregulatory role and have been associated with protection against autoimmunity. We now report on 5 unrelated cases of combined immune deficiency due to hypomorphic RAG mutations, and demonstrate the absence of iNKT cells in all 5 patients. These findings suggest that lack of this important immunoregulatory cell population may contribute to the pathophysiology of Omenn syndrome.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-10552957,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-10606976,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-10777560,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-10891502,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-11133745,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-11313270,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-12543936,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-14530376,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-15630427,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-15696198,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-15963785,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-16027237,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-16763459,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-16960852,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-17150027,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-17475852,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-17476358,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-17476359,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-8321197,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-8617299,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-8861909,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-9374463,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-9630231,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17890453-9664072
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0006-4971
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pubmed:author |
pubmed-author:CortesPatriciaP,
pubmed-author:FinocchiAndreaA,
pubmed-author:GilianiSilviaS,
pubmed-author:MatangkasombutPonpanP,
pubmed-author:MazzolariEvelinaE,
pubmed-author:NotarangeloLuigi DLD,
pubmed-author:PichavantMurielM,
pubmed-author:SaezDoris EDE,
pubmed-author:SobacchiCristinaC,
pubmed-author:UmetsuDale TDT,
pubmed-author:VillaAnnaA
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
111
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
271-4
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:17890453-Cell Line, Tumor,
pubmed-meshheading:17890453-Homeodomain Proteins,
pubmed-meshheading:17890453-Humans,
pubmed-meshheading:17890453-Immunophenotyping,
pubmed-meshheading:17890453-Infant,
pubmed-meshheading:17890453-Infant, Newborn,
pubmed-meshheading:17890453-Killer Cells, Natural,
pubmed-meshheading:17890453-Point Mutation,
pubmed-meshheading:17890453-Severe Combined Immunodeficiency,
pubmed-meshheading:17890453-T-Lymphocytes
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pubmed:year |
2008
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pubmed:articleTitle |
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.
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pubmed:affiliation |
Division of Immunology, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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