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Article

Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022).

Journal of clinical immunology - 1 Oct 2023

Habib Dzulkarnain Syarifah Masyitah, Hashim Ilie Fadzilah, Zainudeen Zarina Thasneem, Taib Fahisham, Mohamad Norsarwany, Nasir Ariffin, Wan Ab Rahman Wan Suriana, Ariffin Hany, Abd Hamid Intan Juliana

Abstract excerpt

Purine nucleoside phosphorylase deficient severe combined immunodeficiency (PNP SCID) is one of the rare autosomal recessive primary immunodeficiency disease, and the data on epidemiology and outcome are limited. We report the successful management of a child with PNP SCID and present a systematic literature review of published case reports, case series, and cohort studies on PNP SCID listed in PubMed, Web of...

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PMID: 37328647
DOI: 10.1007/s10875-023-01532-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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