Disease - Caspase-8 deficiency
- DefinitionDisorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95- induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization.
- AcronymCASP8D
- Cross references
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Browse 1 entry- Caspase-8 · Gene: CASP8 (MCH5) · Homo sapiens (Human) · EC:3.4.22.61 · 479 amino acids · Evidence at protein level · Annotation score: 5/5