Author/Authors :
Alangari, Abdullah King Saud University - Department of Pediatrics, Saudi Arabia , Al-Harbi, Abdullah Al-Hada Military Hospital - Department of Pediatrics, Saudi Arabia , AI-Ghonaium, Abdulaziz King Faisal Specialist Hospital - Department of Pediatrics, Saudi Arabia , Santisteban, Ines Duke University Medical Center - Department of Medicine, USA , Hershfie!d, Michael Duke University Medical Center - Department of Medicine, USA
Abstract :
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
