Given the rarity of this condition, the prognosis and optimal treatment are unclear. Patients who have CEDS have done well while maintained on intravenous immunoglobulin and prophylactic acyclovir to decrease sinopulmonary infections and mucocutaneous herpes virus outbreaks. Investigators at the National Institute of Allergy and Infectious Diseases at the US National Institutes of Health currently have clinical protocols to study new approaches to the diagnosis and treatment of this disorder.
Caspase-8 deficiency
Janus kinase 3 deficiency
ZAP70 deficiency
NGLY1 deficiency
LRBA deficiency
Leukocyte adhesion molecule deficiency
CDKL5 deficiency disorder
PMM2 deficiency