Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

• Main Authors: Alangari Abdullah, Al-Harbi Abdullah, Al-Ghonaium Abdulaziz, Santisteban Ines, Hershfield Michael
• Format: Article
• Language: English
• Published: King Faisal Specialist Hospital and Research Centre 2009-01-01
• Series: Annals of Saudi Medicine
• Online Access: http://www.saudiannals.net/article.asp?issn=0256-4947;year=2009;volume=29;issue=4;spage=309;epage=312;aulast=Alangari

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<i> E coli</i> indicated that the mutation greatly reduced, but did not completely eliminate PNP activity.