Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency

被引：26

作者：

Grunebaum, E ^{[1
]}

Zhang, JY ^{[1
]}

Roifman, CM ^{[1
]}

机构：

[1] Hosp Sick Children, Div Clin Immunol & Allergy, Infect Immun Injury & Repair Program, Inst Res, Toronto, ON M5G 1X8, Canada

来源：

NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS | 2004年 / 23卷 / 8-9期

关键词：

PNP; immunodeficiency; novel; mutations; gene; hot-spots;

D O I：

10.1081/NCN-200027647

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 [生物化学与分子生物学]; 081704 [应用化学];

摘要：

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.

引用

页码：1411 / 1415

页数：5

共 13 条

[1]

ANDREWS LG, 1992, J BIOL CHEM, V267, P7834

[2]

AUST MR, 1992, AM J HUM GENET, V51, P763

[3]

Immunodeficiency caused by purine nucleoside phosphorylase deficiency [J].