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- W2154757961 abstract "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." @default.
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- W2154757961 date "1995-06-01" @default.
- W2154757961 modified "2023-10-01" @default.
- W2154757961 title "Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome" @default.
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- W2154757961 doi "https://doi.org/10.1016/0092-8674(95)90013-6" @default.
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