Caspase 8 Deficiency (CASP8D)

Caspase 8 Deficiency, also known as autoimmune lymphoproliferative syndrome type 2b, is related to classic ehlers-danlos syndrome and hypermobile ehlers-danlos syndrome. An important gene associated with Caspase 8 Deficiency is CASP8 (Caspase 8), and among its related pathways/superpathways are TNFR1 Pathway and p75 NTR receptor-mediated signalling. The drug Thrombin has been mentioned in the context of this disorder. Affiliated tissues include t cells and bone marrow, and related phenotypes are failure to thrive and splenomegaly