| pubmed-article:21109225 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:21109225 | lifeskim:mentions | umls-concept:C0086418 | lld:lifeskim |
| pubmed-article:21109225 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:21109225 | lifeskim:mentions | umls-concept:C1333530 | lld:lifeskim |
| pubmed-article:21109225 | lifeskim:mentions | umls-concept:C1880355 | lld:lifeskim |
| pubmed-article:21109225 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:21109225 | pubmed:dateCreated | 2010-12-7 | lld:pubmed |
| pubmed-article:21109225 | pubmed:abstractText | 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. | lld:pubmed |
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| pubmed-article:21109225 | pubmed:language | eng | lld:pubmed |
| pubmed-article:21109225 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21109225 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:21109225 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:21109225 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:21109225 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:21109225 | pubmed:issn | 1537-6605 | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:AbelLaurentL | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:CasanovaJean-... | lld:pubmed |
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| pubmed-article:21109225 | pubmed:author | pubmed-author:MorganNeil... | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:Rieux-LaucatF... | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:McDonaldDavid... | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:CantAndrewA | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:RiedlStefan... | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:PuelAnneA | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:PremkumarLaks... | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:ByunMinjiM | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:BaconChris... | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:HambletonSoph... | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:AbhyankarAvin... | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:BolzeAlexandr... | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:PangKiK | lld:pubmed |
| pubmed-article:21109225 | pubmed:author | pubmed-author:BritlandAliso... | lld:pubmed |
| pubmed-article:21109225 | pubmed:copyrightInfo | Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. | lld:pubmed |
| pubmed-article:21109225 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:21109225 | pubmed:day | 10 | lld:pubmed |
| pubmed-article:21109225 | pubmed:volume | 87 | lld:pubmed |
| pubmed-article:21109225 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:21109225 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:21109225 | pubmed:pagination | 873-81 | lld:pubmed |
| pubmed-article:21109225 | pubmed:dateRevised | 2011-7-29 | lld:pubmed |
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| pubmed-article:21109225 | pubmed:meshHeading | pubmed-meshheading:21109225... | lld:pubmed |
| pubmed-article:21109225 | pubmed:meshHeading | pubmed-meshheading:21109225... | lld:pubmed |
| pubmed-article:21109225 | pubmed:meshHeading | pubmed-meshheading:21109225... | lld:pubmed |
| pubmed-article:21109225 | pubmed:meshHeading | pubmed-meshheading:21109225... | lld:pubmed |
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| pubmed-article:21109225 | pubmed:meshHeading | pubmed-meshheading:21109225... | lld:pubmed |
| pubmed-article:21109225 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:21109225 | pubmed:articleTitle | Whole-exome-sequencing-based discovery of human FADD deficiency. | lld:pubmed |
| pubmed-article:21109225 | pubmed:affiliation | The Rockefeller University, New York, NY 10065, USA. | lld:pubmed |
| pubmed-article:21109225 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:21109225 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:21109225 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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