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The Broad Clinical Spectrum and Transplant Results of PNP Deficiency


PURPOSE: Purine nucleoside phosphorylase (PNP) is a known yet rare cause of combined immunodeficiency with a heterogeneous clinical presentation. We aim to add to the expanding clinical spectrum of disease, and to summarize the available data on bone marrow transplant for this condition. METHODS: Data was collected from patient files retrospectively. A review of the literature of hematopoietic stem cell transplantation (HSCT) for PNP deficiency was conducted. RESULTS: Four patients were treated in two centers in Israel. One patient died of EBV-related lymphoma with CNS involvement prior to transplant. The other three patients underwent successful HSCT with good immune reconstitution post-transplant (follow-up 8-108 months) and excellent neurological outcomes. CONCLUSION: PNP is a variable immunodeficiency and should be considered in various clinical contexts, with or without neurological manifestations. HSCT offers a good treatment option, with excellent clinical outcomes, when preformed in a timely manner.

Type Journal
ISBN 1573-2592 (Electronic) 0271-9142 (Linking)
Authors Schejter, Y. D.; Even-Or, E.; Shadur, B.; NaserEddin, A.; Stepensky, P.; Zaidman, I.
Responsible Garvan Author Dr Bella Shadur
Published Date 2020-01-01
Status Published in-print
DOI 10.1007/s10875-019-00698-1
URL link to publisher's version