Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients
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...
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King Faisal Specialist Hospital and Research Centre
2009-01-01
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doaj-005f2651639147abb39296fdafc509162020-11-24T21:47:47ZengKing Faisal Specialist Hospital and Research CentreAnnals of Saudi Medicine0256-49472009-01-01294309312Purine nucleoside phosphorylase deficiency in two unrelated Saudi patientsAlangari AbdullahAl-Harbi AbdullahAl-Ghonaium AbdulazizSantisteban InesHershfield MichaelPurine 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<i> E coli</i> indicated that the mutation greatly reduced, but did not completely eliminate PNP activity.http://www.saudiannals.net/article.asp?issn=0256-4947;year=2009;volume=29;issue=4;spage=309;epage=312;aulast=Alangari |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Alangari Abdullah Al-Harbi Abdullah Al-Ghonaium Abdulaziz Santisteban Ines Hershfield Michael |
spellingShingle |
Alangari Abdullah Al-Harbi Abdullah Al-Ghonaium Abdulaziz Santisteban Ines Hershfield Michael Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients Annals of Saudi Medicine |
author_facet |
Alangari Abdullah Al-Harbi Abdullah Al-Ghonaium Abdulaziz Santisteban Ines Hershfield Michael |
author_sort |
Alangari Abdullah |
title |
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients |
title_short |
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients |
title_full |
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients |
title_fullStr |
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients |
title_full_unstemmed |
Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients |
title_sort |
purine nucleoside phosphorylase deficiency in two unrelated saudi patients |
publisher |
King Faisal Specialist Hospital and Research Centre |
series |
Annals of Saudi Medicine |
issn |
0256-4947 |
publishDate |
2009-01-01 |
description |
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<i> E coli</i> indicated that the mutation greatly reduced, but did not completely eliminate PNP activity. |
url |
http://www.saudiannals.net/article.asp?issn=0256-4947;year=2009;volume=29;issue=4;spage=309;epage=312;aulast=Alangari |
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