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Article

Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature.

Hematology (Amsterdam, Netherlands) - 1 Dec 2025

Liu Minyuan, Ji Qi, Zhang Senlin, Qian Jing, Li Bohan, Li Jie, Xiao Peifang, Hu Shaoyan

Abstract excerpt

PURPOSE: We report the case of a 6-year-old boy who presented with muscular hypertonia, impaired growth, and recurrent infections, who was diagnosed with purine nucleoside phosphorylase (PNP) deficiency with two novel mutations in the PNP gene. He underwent a hematopoietic stem cell transplantation (HSCT) from an unrelated donor, and we observed the clinical outcome. METHODS: We retrospectively analyzed the...

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PMID: 39772979
DOI: 10.1080/16078454.2024.2445404

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