caspase-8 deficiency
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Pathology
- defective CD95-induced apoptosis of peripheral blood lymphocytes
- defects in activation of T-lymphocytes, B-lymphocytes, & natural killer cells leading to immunodeficiency
Genetics
- associated with defects in CASP8
Clinical manifestations
- resembles autoimmune lymphoproliferative syndrome
- lymphadenopathy
- splenomegaly
- recurrent sinopulmonary infections
- recurrent herpes simplex virus infections
- poor responses to immunization