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Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.

Journal of leukocyte biology - 1 Mar 2018

Ben-Mustapha Imen, Agrebi Nourhen, Barbouche Mohamed-Ridha

Abstract excerpt

Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency disease due to impaired Fas-Fas ligand apoptotic pathway. It is characterized by chronic nonmalignant, noninfectious lymphadenopathy and/or splenomegaly associated with autoimmune manifestations primarily directed against blood cells. Herein, we review the heterogeneous ALPS molecular bases and discuss recent findings revealed by the...

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Autoimmune Lymphoproliferative Syndrome
Consanguinity
fas Receptor
FAS gene
Mutation

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PMID: 29345341
DOI: 10.1002/JLB.5MR0817-332R

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FAS

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