Autoimmune Lymphoproliferative Syndrome

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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.

Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene.

Synonyms: Lymphoproliferative Syndrome, Autoimmune, Canale-Smith Syndrome, Caspase 8 Deficiency, Deficiencies, Caspase-8, Caspase-8 Deficiencies, Autoimmune Lymphoproliferative Syndromes, Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant, Syndrome, Canale-Smith, Syndrome, Autoimmune Lymphoproliferative, Syndrome, Canale Smith, Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant, Autoimmune Lymphoproliferative Syndrome, Deficiency, Caspase 8, Caspase-8 Deficiency, Syndromes, Canale-Smith, Autoimmune Lymphoproliferative Syndrome Type 2B, Caspase 8 Deficiencies, Canale Smith Syndrome, Deficiency, Caspase-8, Canale-Smith Syndromes, Autoimmune Lymphoproliferative Syndrome, Type IIb, Syndromes, Autoimmune Lymphoproliferative, Lymphoproliferative Syndromes, Autoimmune, Deficiencies, Caspase 8, Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B)