Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

• DOI: 10.4103/0256-4947.55320
• Publication Date: 2009-11-06T06:45:47Z
• Authors: Abdullah Alangari; Abdullah Al-Harbi; Abdulaziz Al-Ghon...; Ines Santisteban; Michael Hershfield
• Keywords: 03 medical and health sciences; 0302 clinical medicine; Purine-Nucleoside Phosphorylase; Child, Preschool; Mutation; R; Saudi Arabia; Medicine; Humans; Case Report; Female; 3. Good health

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder that results in combined immunodeficiency, neurologic dysfunction and autoimmunity. PNP has never been reported from Saudi Arabia or patients with an Arabic ethnic background. We report on two girls deficiency. Both showed severe lymphopenia neurological involvement. Sequencing of the gene one girl revealed novel missense mutation Pro146>Leu exon 4 due to change codon CCT>CTT. Expression (146L) cDNA E coli indicated greatly reduced, but did not completely eliminate activity.