Synonym: Canale-Smith syndrome
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited non-malignant lymphoproliferative disorder characterised by heterozygous mutations within the first apoptosis signal receptor (FAS) signalling pathway. Defects in FAS-mediated apoptosis cause an expansion and accumulation of autoreactive CD4- and CD8- (double-negative) T cells, leading to cytopenias, splenomegaly, lymphadenopathy, autoimmune disorders, and a greatly increased lifetime risk of lymphoma.2
This is a companion discussion topic for the original article at https://patient.info/doctor/autoimmune-lymphoproliferative-syndrome