title: [PNP deficiency].
authors.affiliation: Department of Medicine, Yokohama Rosai Hospital.
authors.forename: T
authors.initials: T
authors.lastname: Sato
authors.forename: Y
authors.initials: Y
authors.lastname: Wakabayashi
mesh_terms: D003848:Deoxyguanine Nucleotides / Q000502:physiology; D003937:Diagnosis, Differential; D006801:Humans; D007111:Immunity, Cellular; D008745:Methylation; D009154:Mutation; D011379:Prognosis; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics; D011687:Purines / Q000378:metabolism; D016511:Severe Combined Immunodeficiency / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy
chemical_list: D003848:Deoxyguanine Nucleotides; D011687:Purines; C029603:deoxyguanosine triphosphate; D011683:Purine-Nucleoside Phosphorylase