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The Broad Clinical Spectrum and Transplant Results of PNP Deficiency

  • Yael Dinur SchejterEmail author
  • Ehud Even-Or
  • Bella Shadur
  • Adeeb NaserEddin
  • Polina Stepensky
  • Irina Zaidman
Original Article

Abstract

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.

Keywords

PNP hematopoietic stem cell transplantation combined immune deficiency EBV-associated primary immune deficiency 

Notes

Acknowledgments

We would like to thank our patients and their families, as well as our departmental nursing and administrative staff for their tireless commitment to patient care. Particularly, we would like to thank Mrs Maram Shweiki, without whose tireless work, our ability to provide optimal care for our patients would be greatly diminished. We would like to thank Prof. Michael Hershfield from Duke University for his help with the assessment of PNP activity in our patients. We would also like to thank Professor Zeev Rotstein, Director of the Hadassah Medical Center for his support of the department and our patients.

Funding Information

Bella Shadur’s position is supported by the Australian Government Research Training Program’s scholarship and by Hadassah Australia.

This work was supported by the Deutsche Forschungsgemeinschaft (discovery and evaluation of new combined immunodeficiency disease entities (DECIDE); grant DFG WA 1597/4-2) and the ERA-Net ERARE Consortium EURO-CID.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Bone Marrow Transplantation DepartmentHadassah-Hebrew University Medical CenterJerusalemIsrael
  2. 2.Immunology DivisionGarvan Institute of Medical ResearchSydneyAustralia
  3. 3.Graduate Research SchoolUniversity of New South WalesSydneyAustralia

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