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Article

Purine nucleoside phosphorylase deficiency with fatal course in two sisters.

European journal of pediatrics - 1 Mar 2010

Aytekin Caner, Dogu Figen, Tanir Gonul, Guloglu Deniz, Santisteban Ines, Hershfield Michael S, Ikinciogullari Aydan

Abstract excerpt

Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diagnosis. The first patient developed a liver abscess by Aspergillus fumigatus and the second...

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Source

Identifiers

PMID: 19657670
DOI: 10.1007/s00431-009-1029-6

Genes

PNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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