The Broad Clinical Spectrum and Transplant Results of PNP Deficiency

J Clin Immunol. 2020 Jan;40(1):123-130. doi: 10.1007/s10875-019-00698-1. Epub 2019 Nov 9.

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

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow Transplantation / methods
  • Child, Preschool
  • Female
  • Hematopoietic Stem Cell Transplantation / methods
  • Humans
  • Infant
  • Israel
  • Male
  • Primary Immunodeficiency Diseases / genetics*
  • Purine-Nucleoside Phosphorylase / deficiency*
  • Purine-Nucleoside Phosphorylase / genetics*
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics*
  • Retrospective Studies
  • Severe Combined Immunodeficiency / genetics*
  • Transplantation Conditioning / methods

Substances

  • Purine-Nucleoside Phosphorylase

Supplementary concepts

  • Purine Nucleoside Phosphorylase Deficiency