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• W2070923918 abstract "Germline mutations in FASL and FAS impair Fas-dependent apoptosis and cause recessively or dominantly inherited autoimmune lymphoproliferative syndrome (ALPS). Patients with ALPS typically present with no other clinical phenotype. We investigated a large, consanguineous, multiplex kindred in which biological features of ALPS were found in the context of severe bacterial and viral disease, recurrent hepatopathy and encephalopathy, and cardiac malformations. By a combination of genome-wide linkage and whole-exome sequencing, we identified a homozygous missense mutation in FADD, encoding the Fas-associated death domain protein (FADD), in the patients. This FADD mutation decreases steady-state protein levels and impairs Fas-dependent apoptosis in vitro, accounting for biological ALPS phenotypes in vivo. It also impairs Fas-independent signaling pathways. The observed bacterial infections result partly from functional hyposplenism, and viral infections result from impaired interferon immunity. We describe here a complex clinical disorder, its genetic basis, and some of the key mechanisms underlying its pathogenesis. Our findings highlight the key role of FADD in Fas-dependent and Fas-independent signaling pathways in humans." @default.
• W2070923918 created "2016-06-24" @default.
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• W2070923918 date "2010-12-01" @default.
• W2070923918 modified "2023-10-16" @default.
• W2070923918 title "Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency" @default.
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• W2070923918 doi "https://doi.org/10.1016/j.ajhg.2010.10.028" @default.
• W2070923918 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2997374" @default.
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