Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Alangari, A; Al-Harbi, A; Al-Ghonaium, A; Santisteban, I; Hershfield, M

Published Date

  • July 2009

Published In

Volume / Issue

  • 29 / 4

Start / End Page

  • 309 - 312

PubMed ID

  • 19584574

Pubmed Central ID

  • 19584574

Electronic International Standard Serial Number (EISSN)

  • 0975-4466

Digital Object Identifier (DOI)

  • 10.4103/0256-4947.55320


  • eng

Conference Location

  • Saudi Arabia