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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2007-3-8
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pubmed:abstractText |
Hyper-immunoglobulin M (IgM) syndrome (HIGM) is a rare primary immunodeficiency characterized by elevated or normal IgM and absent or markedly decreased amounts of IgG, IgA and IgE. The X-linked form (HIGM1) is the most common type and is caused by mutations in the gene for CD40L, a T-cell surface molecule required for T-cell driven immunoglobulin class switching by B cells. In the present study we have identified a patient with X-linked hyper-IgM who failed to express CD40L on the cell surface of CD4(+) T lymphocytes. Sequence analysis of CD40L genomic DNA showed no mutations. CD40L mRNA was absent and sequence analysis of the CD40L promotor revealed a mutation at position -123 from the transcription start site. The mutation in the promotor region likely contributed to the decreased transcription as demonstrated by a luciferase reporter assay.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-11112447,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-12140747,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-12955358,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-14663287,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-7678782,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-7679206,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-7679801,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-7681587,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-7999797,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-8094231,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-8530342,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-8961627,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17244160-9255191
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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 |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0019-2805
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
120
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
497-501
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:17244160-CD40 Ligand,
pubmed-meshheading:17244160-Genetic Diseases, X-Linked,
pubmed-meshheading:17244160-Humans,
pubmed-meshheading:17244160-Hypergammaglobulinemia,
pubmed-meshheading:17244160-Immunoglobulin M,
pubmed-meshheading:17244160-Immunologic Deficiency Syndromes,
pubmed-meshheading:17244160-Infant,
pubmed-meshheading:17244160-Male,
pubmed-meshheading:17244160-Promoter Regions, Genetic,
pubmed-meshheading:17244160-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:17244160-Syndrome
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pubmed:year |
2007
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pubmed:articleTitle |
Hyper-immunoglobulin M syndrome caused by a mutation in the promotor for CD40L.
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pubmed:affiliation |
Laboratory Medicine, Immunology, University Hospital Leuven, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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