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• W2924766607 startingPage "410" @default.
• W2924766607 abstract "Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive primary immunodeficiency disorder characterized by decreased numbers of T-cells, variable B-cell abnormalities, decreased amount of serum uric acid and PNP enzyme activity. The affected patients usually present with recurrent infections, neurological dysfunction and autoimmune phenomena. In this study, whole-exome sequencing was used to detect mutation in the case suspected of having primary immunodeficiency. We found a homozygous mutation in PNP gene in a girl who is the third case from the national Iranian registry. She had combined immunodeficiency, autoimmune hemolytic anemia and a history of recurrent infections. She developed no neurological dysfunction. She died at the age of 11 after a severe chicken pox infection. PNP deficiency should be considered in late-onset children with recurrent infections, autoimmune disorders without typical neurologic impairment." @default.
• W2924766607 created "2019-04-01" @default.
• W2924766607 creator A5025067610 @default.
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• W2924766607 creator A5051258190 @default.
• W2924766607 creator A5062198390 @default.
• W2924766607 date "2019-03-19" @default.
• W2924766607 modified "2023-10-14" @default.
• W2924766607 title "The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature" @default.
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• W2924766607 doi "https://doi.org/10.1080/08820139.2019.1570249" @default.
• W2924766607 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30885031" @default.
• W2924766607 hasPublicationYear "2019" @default.
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