title: Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.
abstract: Purine nucleoside phosphorylase (PNP) deficiency results in severe immune dysfunction and early death from infections. Lymphopenia, reduced serum uric acid, and abnormal PNP enzymatic activity assist in the diagnosis of PNP-deficient patients. Analysis of the gene encoding PNP in these patients reveals several recurring mutations. Identification of these hot-spots for mutation may allow faster confirmation of the diagnosis in suspected cases.
authors.affiliation: Division of Clinical Immunology and Allergy, Infection, Immunity, Injury and Repair Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Eyal
authors.initials: E
authors.lastname: Grunebaum
authors.forename: Junyang
authors.initials: J
authors.lastname: Zhang
authors.forename: Chaim M
authors.initials: CM
authors.lastname: Roifman
mesh_terms: D018899:CpG Islands; D018076:DNA, Complementary / Q000378:metabolism; D004926:Escherichia coli / Q000378:metabolism; D005091:Exons; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008231:Lymphopenia / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D011092:Polyethylene Glycols / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics; D017422:Sequence Analysis, DNA; D014527:Uric Acid / Q000097:blood* / Q000378:metabolism
chemical_list: D018076:DNA, Complementary; D014527:Uric Acid; D011092:Polyethylene Glycols; D011683:Purine-Nucleoside Phosphorylase