Printable factfile
Defects in CASP8 are the cause of caspase 8 deficiency, a disorder resembling autoimmune lymphoproliferative syndrome (ALPS). The disease is characterised by defects in activation of T lymphocytes, B lymphocytes, natural killer cells and defective CD95-mediated apoptosis.
Alternative names
CASP8D
Caspase 8 deficiency
ALPS2B
Classification
- Defects in lymphocyte apoptosis
- Autoimmune lymphoproliferative syndrome
Inheritance
Autosomal dominant
Cross references
Phenotypically related immunodeficiencies
IDR factfile for Apoptosis mediator APO-1/Fas defects
IDR factfile for APO-1 ligand/Fas ligand defects
IDR factfile for Autoimmune lymphoproliferative syndrome type II
Incidence
Incidence is not known.