Alangari Abdullah, Al-Harbi Abdullah, Al-Ghonaium Abdulaziz, Santisteban Ines, Hershfield Michael
Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia.
Ann Saudi Med. 2009 Jul-Aug;29(4):309-12. doi: 10.4103/0256-4947.55320.
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.
嘌呤核苷磷酸化酶（PNP）缺乏症是一种罕见的常染色体隐性代谢紊乱疾病，可导致联合免疫缺陷、神经功能障碍和自身免疫。沙特阿拉伯或具有阿拉伯族裔背景的患者中从未有过PNP缺乏症的报道。我们报告了两名患有PNP缺乏症的沙特女孩。两人均表现出严重的淋巴细胞减少和神经受累。对其中一名女孩的PNP基因进行测序，发现外显子4中由于密码子从CCT变为CTT，出现了一种新的错义突变Pro146>Leu。PNP（146L）cDNA在大肠杆菌中的表达表明，该突变极大地降低了，但并未完全消除PNP活性。
