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GENATLAS PHENOTYPE
last update : 16/06/2006
Symbol CASP8D
Location 2q33.1
Name defective lymphocyte activation and apoptosis
Other name(s)
  • caspase 8 deficiency
  • autoimmune lymphoproliferative syndrome, type IIB
  • Corresponding gene CASP8
    Other symbol(s) ALPS2B
    Main clinical features lymphadenopathy, splenomegaly, immunodeficiency
    Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name caspase 8
    Remark(s)