Autoimmune lymphoproliferative syndrome causes: Difference between revisions
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==Causes== | ==Causes== | ||
* Most of the cases autosomal dominant, heterozygous germline mutation in FAS. <ref name="OliveiraBleesing2010">{{cite journal|last1=Oliveira|first1=Joao B.|last2=Bleesing|first2=Jack J.|last3=Dianzani|first3=Umberto|last4=Fleisher|first4=Thomas A.|last5=Jaffe|first5=Elaine S.|last6=Lenardo|first6=Michael J.|last7=Rieux-Laucat|first7=Frederic|last8=Siegel|first8=Richard M.|last9=Su|first9=Helen C.|last10=Teachey|first10=David T.|last11=Rao|first11=V. Koneti|title=Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop|journal=Blood|volume=116|issue=14|year=2010|pages=e35–e40|issn=0006-4971|doi=10.1182/blood-2010-04-280347}}</ref> | |||
* 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== | ||
Revision as of 16:52, 24 June 2021
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
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.