Novel mutations and hot‐spots in patients with purine nucleoside phosphorylase deficiency
E Grunebaum, J Zhang, CM Roifman - … , Nucleotides and Nucleic …, 2004 - Taylor & Francis
E Grunebaum, J Zhang, CM Roifman
Nucleosides, Nucleotides and Nucleic Acids, 2004•Taylor & FrancisPurine 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.
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.
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.
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