CASP8

PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Caspase-8 deficiency state, CEDS, Immunodeficiency due to CASP8 deficiency, Caspase 8 deficiency, Autoimmune lymphoproliferative syndrome (ALPS), ?Autoimmune lymphoproliferative syndrome, type IIB, 607271, Adenopathies, splenomegaly, bacterial and viral infections, hypogammaglobulinemia, Diseases of Immune Dysregulation