Autoimmune Lymphoproliferative Syndrome (Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant; Autoimmune Lymphoproliferative Syndrome Type 2B; Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B); Canale Smith Syndrome; Caspase 8 Deficiency; Caspase-8 Deficiency)
Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; splenomegaly; and autoimmunity.