Autoimmune Lymphoproliferative Syndrome

Autoimmunt lymfoproliferativt syndrom

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