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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1995-7-19
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pubmed:abstractText |
Five unrelated children are described with a rare autoimmune lymphoproliferative syndrome (ALPS) characterized by massive nonmalignant lymphadenopathy, autoimmune phenomena, and expanded populations of TCR-CD3+CD4-CD8- lymphocytes. These findings, suggesting a genetic defect in the ability of T lymphocytes to respond to normal immunoregulatory mechanisms, prompted an evaluation of lymphocyte apoptosis. Each child had defective Fas-mediated T lymphocyte apoptosis associated with a unique, deleterious Fas gene mutation. One mutation appeared to cause a simple loss of function; however, four others had a dominant negative phenotype when coexpressed with normal Fas. Family studies demonstrated the inheritance of the mutant Fas alleles. The occurrence of Fas mutations together with abnormal T cell apoptosis in ALPS patients suggests an involvement of Fas in this recently recognized disorder of lymphocyte homeostasis and peripheral self-tolerance.
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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 |
Jun
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pubmed:issn |
0092-8674
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:day |
16
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pubmed:volume |
81
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pubmed:geneSymbol |
Fas
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
935-46
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7540117-Antigens, CD95,
pubmed-meshheading:7540117-Antigens, Surface,
pubmed-meshheading:7540117-Apoptosis,
pubmed-meshheading:7540117-Autoimmune Diseases,
pubmed-meshheading:7540117-Base Sequence,
pubmed-meshheading:7540117-Child, Preschool,
pubmed-meshheading:7540117-DNA, Complementary,
pubmed-meshheading:7540117-DNA Primers,
pubmed-meshheading:7540117-Female,
pubmed-meshheading:7540117-Genes, Dominant,
pubmed-meshheading:7540117-Heterozygote,
pubmed-meshheading:7540117-Humans,
pubmed-meshheading:7540117-Infant,
pubmed-meshheading:7540117-Lymphoproliferative Disorders,
pubmed-meshheading:7540117-Male,
pubmed-meshheading:7540117-Molecular Sequence Data,
pubmed-meshheading:7540117-Mutation,
pubmed-meshheading:7540117-Pedigree,
pubmed-meshheading:7540117-Phenotype,
pubmed-meshheading:7540117-Receptors, Antigen, T-Cell,
pubmed-meshheading:7540117-T-Lymphocyte Subsets
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pubmed:year |
1995
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pubmed:articleTitle |
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.
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pubmed:affiliation |
Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892-4470, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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