Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Autoimmune lymphoproliferative syndrome causes
Introduction
Overview
Overview
The autoimmune lymphoproliferative syndrome is a disease caused by the defect in FAS-mediated apoptosis.
Causes
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
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Sharmi Biswas, M.B.B.S