title: Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.
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.
authors: Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia. alangari100@hotmail.com
authors: Abdullah
authors: A
authors: Alangari
authors: Abdullah
authors: A
authors: Al-Harbi
authors: Abdulaziz
authors: A
authors: Al-Ghonaium
authors: Ines
authors: I
authors: Santisteban
authors: Michael
authors: M
authors: Hershfield
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D009154:Mutation; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency* / Q000235:genetics; D012529:Saudi Arabia
chemical_list: D011683:Purine-Nucleoside Phosphorylase