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Article

Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations.

Archives of Iranian medicine - 1 Dec 2023

Alizadeh Zahra, Badalzadeh Mohsen, Heydarlou Hanieh, Shakerian Leila, Mahlooji Rad Maryam, Zandieh Fariborz, Fazlollahi Mohammad Reza

Abstract excerpt

Two Iranian patients with purine nucleoside phosphorylase (PNP) deficiency are described in terms of their clinical and molecular evaluations. PNP deficiency is a rare form of combined immunodeficiency with a profound cellular defect. Patients with PNP deficiency suffer from variable recurrent infections, hypouricemia, and neurological manifestations. Furthermore, patient 1 developed mild cortical atrophy, and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Purine-Pyrimidine Metabolism, Inborn Errors

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Identifiers

PMID: 38431953
DOI: 10.34172/aim.2023.105
PMCID: PMC10915924

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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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