Autoimmune lymphoproliferative syndrome

Also known as: ALPS; Canale–Smith syndrome

Defective lymphocyte apoptosis with lymphoproliferation and autoimmune cytopenias.

Medical specialty: Hematology
Subspecialty: Hematology / Autoimmune cytopenias
Sex & age distribution: Male: affected; Female: affected; Children: yes, median onset about 2 years
Gene(s) involved: CASP10, CASP8, FAS, FASLG, KRAS, NRAS

Etiology & mechanism

FAS pathway defects.

Gene(s) involved (6)

CASP10CASP8FASFASLGKRASNRAS

Symptoms & signs (5)

autoimmune cytopeniasincreased double-negative t cellslymphadenopathylymphoma risksplenomegaly

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.