Supportive treatment, including intravenous immunoglobulin therapy, prophylaxis for Pneumocystis carinii, and physical, occupational, and speech therapy, reduces the risk of infection and may encourage optimal neurologic development for patients.
Purine nucleoside phosphorylase deficiency
Dihydropyrimidine dehydrogenase deficiency
Adenine phosphoribosyltransferase deficiency
Dihydrofolate reductase deficiency
Mevalonate kinase deficiency
Guanidinoacetate methyltransferase deficiency
Methylenetetrahydrofolate reductase deficiency
Glutathione synthetase deficiency