Source:http://linkedlifedata.com/resource/pubmed/id/10340403
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
1999-6-7
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pubmed:abstractText |
Apoptosis via CD95 and its ligand is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis. The apoptosis receptor CD95 is a transmembrane protein with an intracellular domain well conserved between CD95 and tumor necrosis factor receptor I, another apoptosis-inducing protein. Because of its functional importance, this domain was designated the death domain. We describe the molecular analysis of the CD95 death domain in a family with autoimmune lymphoproliferative syndrome (Canale-Smith syndrome), T-cell lymphoma, and Hodgkin's disease. A functional defect in apoptosis was detected in cells from the index patient, a 5-year-old girl suffering from Canale-Smith syndrome and a T-cell lymphoma, as well as in her father, who had a history of splenomegaly and mild hemolysis, and her paternal uncle who had been cured of Hodgkin's disease (HD). Expansion of double-negative T cells (CD4-CD8-) was only seen in the index patient. All family members with a functional defect in apoptosis were heterozygous for a point mutation in the death domain of CD95 (A1009G, E256G). We conclude that, within the same family, a defect in apoptosis due to a mutation in the CD95 death domain can be associated with diverse clinical phenotypes, including mild, reversible symptoms and different malignancies.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0301-472X
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
27
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
868-74
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:10340403-Antigens, CD95,
pubmed-meshheading:10340403-Apoptosis,
pubmed-meshheading:10340403-Autoimmune Diseases,
pubmed-meshheading:10340403-Base Sequence,
pubmed-meshheading:10340403-Child, Preschool,
pubmed-meshheading:10340403-DNA Primers,
pubmed-meshheading:10340403-Female,
pubmed-meshheading:10340403-Hodgkin Disease,
pubmed-meshheading:10340403-Humans,
pubmed-meshheading:10340403-Immunophenotyping,
pubmed-meshheading:10340403-Lymphoma, T-Cell,
pubmed-meshheading:10340403-Lymphoproliferative Disorders,
pubmed-meshheading:10340403-Male,
pubmed-meshheading:10340403-Pedigree,
pubmed-meshheading:10340403-Point Mutation
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pubmed:year |
1999
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pubmed:articleTitle |
Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease.
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pubmed:affiliation |
University Children's Hospital Freiburg, Germany. peters@kklzoo.ukl.uni-freiburg.de
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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