| http://purl.uniprot.org/citations/21109225 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21109225 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21109225 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.10.028"xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.10.028"xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "McDonald D."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "McDonald D."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Maher E.R."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Maher E.R."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Morgan N.V."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Morgan N.V."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Hambleton S."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Hambleton S."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Abel L."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Abel L."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Riedl S.J."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Riedl S.J."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Puel A."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Puel A."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Rieux-Laucat F."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Rieux-Laucat F."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Byun M."xsd:string |
| http://purl.uniprot.org/citations/21109225 | http://purl.uniprot.org/core/author | "Byun M."xsd:string |