CEDS has features similar to ALPS, another genetic disease of apoptosis, with the addition of an immunodeficient phenotype. Thus, the clinical manifestations include splenomegaly and lymphadenopathy, in addition to recurrent sinopulmonary infections, recurrent mucocutaneous herpesvirus, persistent warts and molluscum contagiosum infections, and hypogammaglobulinemia. There is sometimes lymphocytic infiltrative disease in parenchymal organs, but autoimmunity is minimal and lymphoma has not been observed in the CEDS patients.
Caspase-8 deficiency
Janus kinase 3 deficiency
ZAP70 deficiency
NGLY1 deficiency
LRBA deficiency
Leukocyte adhesion molecule deficiency
CDKL5 deficiency disorder
PMM2 deficiency