Engelsk definition
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.
Svenska synonymer
Canale-Smiths syndrom — Kasbas 8-brist
Engelska synonymer
Autoimmune Lymphoproliferative Syndromes — Lymphoproliferative Syndrome, Autoimmune — Lymphoproliferative Syndromes, Autoimmune — Syndrome, Autoimmune Lymphoproliferative — Syndromes, Autoimmune Lymphoproliferative — Canale-Smith Syndrome — Canale-Smith Syndromes — Syndrome, Canale-Smith — Syndromes, Canale-Smith — Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant — Canale Smith Syndrome — Syndrome, Canale Smith — Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant — Autoimmune Lymphoproliferative Syndrome Type 2B — Caspase-8 Deficiency — Caspase-8 Deficiencies — Deficiencies, Caspase-8 — Deficiency, Caspase-8 — Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B) — Autoimmune Lymphoproliferative Syndrome, Type IIb — Caspase 8 Deficiency — Caspase 8 Deficiencies — Deficiencies, Caspase 8 — Deficiency, Caspase 8