Preferred Label : Caspase 8 deficiency;
CISMeF acronym : CEDS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : CEDS; Autoimmune lymphoproliferative syndrome, type iib; ALPS2B;
Description : Caspase 8 deficiency is a syndrome of lymphadenopathy and splenomegaly, marginal elevation
of 'double-negative T cells' (DNT; T-cell receptor alpha/beta , CD4-/CD8-), defective
FAS-induced apoptosis, and defective T-, B-, and natural killer (NK)-cell activation,
with recurrent bacterial and viral infections (summary by Madkaikar et al., 2011).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the caspase 8 gene (CASP8, 601763.0001);
Prefixed ID : #607271;
Origin ID : 607271;
UMLS CUI : C1846545;
Automatic exact mappings (from CISMeF team)
CISMeF manual mappings
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)