Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

被引：14

作者：

Alangari, Abdullah ^{[1
]}

Al-Harbi, Abdullah ^{[2
]}

Al-Ghonaium, Abdulaziz ^{[3
]}

Santisteban, Ines ^{[4
]}

Hershfield, Michael ^{[4
]}

机构：

[1] King Saud Univ, Coll Med, Dept Pediat, Riyadh 11461, Saudi Arabia

[2] Al Hada Mil Hosp, Dept Pediat, At Taif, Saudi Arabia

[3] King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Riyadh, Saudi Arabia

[4] Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA

来源：

ANNALS OF SAUDI MEDICINE | 2009年 / 29卷 / 04期

关键词：

ADENOSINE-DEAMINASE DEFICIENCY; IMMUNODEFICIENCY; CHILD;

D O I：

10.4103/0256-4947.55320

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder that results in combined immunodeficiency, neurologic dysfunction and autoimmunity. PNP deficiency has never been reported from Saudi Arabia or in patients with an Arabic ethnic background. We report on two Saudi girls with PNP deficiency. Both showed severe lymphopenia and neurological involvement. Sequencing of the PNP gene of one girl revealed a novel missense mutation Pro146>Leu in exon 4 due to a change in the codon from CCT>CTT. Expression of PNP (146L) cDNA in E coli indicated that the mutation greatly reduced, but did not completely eliminate PNP activity.

引用

页码：309 / 312

页数：4

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