Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.
Publication
, Journal Article
Alangari, A; Al-Harbi, A; Al-Ghonaium, A; Santisteban, I; Hershfield, M
Published in: Ann Saudi Med
2009
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.
Duke Scholars
Published In
Ann Saudi Med
DOI
EISSN
0975-4466
Publication Date
2009
Volume
29
Issue
4
Start / End Page
309 / 312
Location
Saudi Arabia
Related Subject Headings
- Saudi Arabia
- Purine-Nucleoside Phosphorylase
- Mutation
- Humans
- General & Internal Medicine
- Female
- Child, Preschool
- 32 Biomedical and clinical sciences
- 11 Medical and Health Sciences
Citation
APA
Chicago
ICMJE
MLA
NLM
Alangari, A., Al-Harbi, A., Al-Ghonaium, A., Santisteban, I., & Hershfield, M. (2009). Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients. Ann Saudi Med, 29(4), 309–312. https://doi.org/10.4103/0256-4947.55320
Alangari, Abdullah, Abdullah Al-Harbi, Abdulaziz Al-Ghonaium, Ines Santisteban, and Michael Hershfield. “Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.” Ann Saudi Med 29, no. 4 (2009): 309–12. https://doi.org/10.4103/0256-4947.55320.
Alangari A, Al-Harbi A, Al-Ghonaium A, Santisteban I, Hershfield M. Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients. Ann Saudi Med. 2009;29(4):309–12.
Alangari, Abdullah, et al. “Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.” Ann Saudi Med, vol. 29, no. 4, 2009, pp. 309–12. Pubmed, doi:10.4103/0256-4947.55320.
Alangari A, Al-Harbi A, Al-Ghonaium A, Santisteban I, Hershfield M. Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients. Ann Saudi Med. 2009;29(4):309–312.
Published In
Ann Saudi Med
DOI
EISSN
0975-4466
Publication Date
2009
Volume
29
Issue
4
Start / End Page
309 / 312
Location
Saudi Arabia
Related Subject Headings
- Saudi Arabia
- Purine-Nucleoside Phosphorylase
- Mutation
- Humans
- General & Internal Medicine
- Female
- Child, Preschool
- 32 Biomedical and clinical sciences
- 11 Medical and Health Sciences