caspase 8 deficiency

(redirected from CASP8D)

caspase 8 deficiency

An autoimmune lymphoproliferative-syndrome-like disorder (OMIM:607271) which is characterised by lymphadenopathy, splenomegaly and defective CD95-induced apoptosis of peripheral blood lymphocytes, leading to defects in activation of T-, B- and natural killer cells and immunodeficiency with recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunisation.

Molecular pathology
Defects in CASP8 on chromosome 2q33-q34, which encodes a caspase that plays a central role in apoptosis, cause caspase-8 deficiency.