In addition to the symptoms associated with immunodeficiency, such as depletion of T-cells, decline of lymphocyte activity, and an abrupt proliferation of both benign and opportunistic infections — PNP-deficiency is often characterized by the development of autoimmune disorders. lupus erythematosus, autoimmune hemolytic anemia, and idiopathic thrombocytopenic purpura have been reported with PNP-deficiency. Neurological symptoms, such as developmental decline, hypotonia, and mental retardation have also been reported.
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