Article
Autoimmune lymphoproliferative syndrome: A disorder of immune dysregulation.
Autoimmunity reviews - 1 Nov 2023
Paskiewicz Amy, Niu Jianli, Chang Christopher
Abstract excerpt
Autoimmune Lymphoproliferative Syndrome (ALPS) is an autoimmune disease that has been reported in over 2200 patients. It is a rare, genetic disease where pathogenic variants occur in the extrinsic pathway of apoptosis. Various mutations in different genes, such as FAS, FASL, and CASP10, can result in ALPS. Most commonly, pathogenic variants occur in the FAS receptor. This malfunctioning pathway allows for the...
Topics
- Humans
- Autoimmune Lymphoproliferative Syndrome
- Autoimmune Diseases
- fas Receptor
- Splenomegaly
- Mutation
- Sirolimus
- Lymphoproliferative Disorders