1. Whole-exome-sequencing-based discovery of human FADD deficiency
- Author
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Bolze, Alexandre, Byun, Minji, McDonald, David, Morgan, Neil V., Abhyankar, Avinash, Premkumar, Lakshmannane, Puel, Anne, Bacon, Chris M., Rieux-Laucat, Frederic, Ki Pang, Britland, Alison, Abel, Laurent, Cant, Andrew, Maher, Eamonn R., Riedl, Stefan J., Hambleton, Sophie, and Casanova, Jean-Laurent
- Subjects
Gene mutations -- Analysis ,Autoimmune diseases -- Genetic aspects ,Autoimmune diseases -- Research ,Biological sciences - Abstract
A combination of genome-wide linkage and whole-exome sequencing was used to identify a homozygous missense mutation in FADD, encoding the Fas-associated death domain protein (FADD) which cause dominantly inherited autoimmune lymphoproliferative syndrome (ALPS) in the patients. The results provide insight into the key role of FADD in Fas-dependent and Fas-independent signaling pathways in humans and genetic basis of the complex clinical disorder and some of the key mechanisms underlying its pathogenesis.
- Published
- 2010