ALPS – Ten Lessons from an International Workshop on a Genetic Disease of Apoptosis

Molecules involved in canonical Fas signaling are illustrated on top and the normal signaling pathway on the left. Membrane-bound Fas ligand binds the pre-associated trimeric Fas and triggers formation of the death-inducing signaling complex (DISC) by recruiting adaptor FADD (Fas-associated death domain) protein, caspase-8 (Casp8) and/or caspase-10 (Casp10). On the right, the identified gene mutations in ALPS and ALPS-like patients are linked to their clinical classifications. The percentage incidence for each type is shown in parenthesis. Mutations for ALPS: Type-Ia: Fas; Type-Ib: Fas ligand; Type-Im: somatic mutation of Fas; Type-II: Casp-10; Type-III: unknown genetic defect; Type-IV: N-Ras (neuroblastoma Ras, a molecule involved in the regulation of cytokine-withdrawal apoptosis); CEDS (Caspase-8 deficiency state): Casp8 homozygous gene defect. Bim stands for BCL-2-interacting mediator of cell death.
ALPS – Ten Lessons from an International Workshop on a Genetic Disease of Apoptosis
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Publication

ALPS – Ten Lessons from an International Workshop on a Genetic Disease of Apoptosis. () Michael J. Lenardo, et al. Immunity. ;32(3):291-295. Figure: F1.

Gene mentions


Organism Group Word Match Source NCBI Symbol NCBI ID
Danio rerio Vertebrates FasL FASL ncbigene_synonym faslg 735295
Danio rerio Vertebrates Fas/CD95 FAS ncbigene_symbol fas 768248
Danio rerio Vertebrates FADD FADD ncbigene_symbol fadd 562317
Danio rerio Vertebrates Casp8 CASP8 ncbigene_symbol casp8 58022
Danio rerio Vertebrates Casp10 CASP10 ncbigene_symbol casp10 557302
Danio rerio Vertebrates (rare) RARE ncbigene_synonym fra10ac1 449836
Danio rerio Vertebrates N-Ras NRAS ncbigene_symbol nras 30380
Danio rerio Vertebrates Bim BIM ncbigene_synonym bcl2l11 100190951
Homo sapiens Primates FasL FASL ncbigene_synonym FASLG 356
Homo sapiens Primates Fas/CD95 CD95 ncbigene_synonym FAS 355
Homo sapiens Primates Fas/CD95 FAS ncbigene_synonym FASN 2194
Homo sapiens Primates FADD FADD ncbigene_symbol FADD 8772
Homo sapiens Primates Casp8 CASP8 ncbigene_symbol CASP8 841
Homo sapiens Primates Casp10 CASP10 ncbigene_symbol CASP10 843
Homo sapiens Primates N-Ras N-RAS ncbigene_synonym NRAS 4893
Homo sapiens Primates Bim BIM ncbigene_synonym BCL2L11 10018

Chemical mentions

Word Match MeSH Name ChEBI

Disease mentions

Word Match MeSH Name DOID