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
Scope note in English
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.
