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.
Also Known As:
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant; Autoimmune Lymphoproliferative Syndrome, Type IIb; Canale-Smith Syndrome; Autoimmune Lymphoproliferative Syndromes; Canale-Smith Syndromes; Caspase 8 Deficiencies; Caspase-8 Deficiencies; Deficiencies, Caspase 8; Deficiencies, Caspase-8; Deficiency, Caspase 8; Deficiency, Caspase-8; Lymphoproliferative Syndrome, Autoimmune; Lymphoproliferative Syndromes, Autoimmune; Syndrome, Autoimmune Lymphoproliferative; Syndrome, Canale Smith; Syndrome, Canale-Smith; Syndromes, Autoimmune Lymphoproliferative; Syndromes, Canale-Smith; 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