Autoimmune lymphoproliferative syndrome causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
The autoimmune lymphoproliferative syndrome is a disease caused by the defect in FAS-mediated apoptosis.
Causes
- Most of the cases autosomal dominant, heterozygous germline mutation in FAS. [1]
- Somatic FAS mutation is the second most common cause.
- Minority of cases mutations in the genes encoding FAS ligand, caspase 10, caspase 8, and neuroblastoma RAS.
- One-third of patients have unidentified genetic defects.
References
- ↑ Oliveira, Joao B.; Bleesing, Jack J.; Dianzani, Umberto; Fleisher, Thomas A.; Jaffe, Elaine S.; Lenardo, Michael J.; Rieux-Laucat, Frederic; Siegel, Richard M.; Su, Helen C.; Teachey, David T.; Rao, V. Koneti (2010). "Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop". Blood. 116 (14): e35–e40. doi:10.1182/blood-2010-04-280347. ISSN 0006-4971.