" /> Caspase 8 deficiency - CISMeF





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;

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04/05/2025


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