Medical Subject Headings

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/MESH/D056735
http://purl.bioontology.org/ontology/MESH/D056735
Preferred Name

Autoimmune Lymphoproliferative Syndrome

Definitions
Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene. 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.
Synonyms
Canale Smith Syndrome
Syndrome, Canale-Smith
Caspase 8 Deficiencies
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant
Autoimmune Lymphoproliferative Syndrome Type 2B
Deficiencies, Caspase-8
Caspase-8 Deficiency
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant
Lymphoproliferative Syndrome, Autoimmune
Caspase 8 Deficiency
Canale-Smith Syndrome
Syndrome, Autoimmune Lymphoproliferative
Autoimmune Lymphoproliferative Syndrome, Type IIb
Deficiencies, Caspase 8
Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B)
Deficiency, Caspase 8
Syndromes, Autoimmune Lymphoproliferative
Lymphoproliferative Syndromes, Autoimmune
Caspase-8 Deficiencies
Syndromes, Canale-Smith
Deficiency, Caspase-8
Canale-Smith Syndromes
Autoimmune Lymphoproliferative Syndromes
Syndrome, Canale Smith
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Type http://www.w3.org/2002/07/owl#Class
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