Concept information
Término preferido
Autoimmune Lymphoproliferative Syndrome
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Tipo
-
mesh:Descriptor
Definición
- 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.
Concepto genérico
Etiquetas alternativas
- Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant
- Canale Smith Syndrome
- Canale-Smith Syndrome
En otras lenguas
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francés
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SLPA
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Syndrome de Canale-Smith
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Syndrome lymphoprolifératif auto-immun
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Syndrome lymphoprolifératif avec autoimmunité
URI
http://data.loterre.fr/ark:/67375/JVR-XD1F4DRZ-Q
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