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

J Clin Immunol. 2023 Oct;43(7):1623-1639. doi: 10.1007/s10875-023-01532-5. Epub 2023 Jun 16.


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 Science, and Scopus from 1975 until March 2022. Forty-one articles were included from the 2432 articles retrieved and included 100 PNP SCID patients worldwide. Most patients presented with recurrent infections, hypogammaglobulinaemia, autoimmune manifestations, and neurological deficits. There were six reported cases of associated malignancies, mainly lymphomas. Twenty-two patients had undergone allogeneic hematopoietic stem cell transplantation with full donor chimerism seen mainly in those receiving matched sibling donors and/or conditioning chemotherapy before the transplant. This research provides a contemporary, comprehensive overview on clinical manifestations, epidemiology, genotype mutations, and transplant outcome of PNP SCID. These data highlight the importance of screening for PNP SCID in cases presented with recurrent infections, hypogammaglobulinaemia, and neurological deficits.

Keywords: Case report; Clinical manifestation; Purine nucleoside phosphorylase (PNP); Severe combined immunodeficiency (SCID); Systematic review.

Publication types

  • Case Reports
  • Systematic Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agammaglobulinemia* / complications
  • Agammaglobulinemia* / diagnosis
  • Agammaglobulinemia* / therapy
  • Child
  • Humans
  • Mutation
  • Purine-Nucleoside Phosphorylase / genetics
  • Reinfection / complications
  • Severe Combined Immunodeficiency* / diagnosis
  • Severe Combined Immunodeficiency* / genetics
  • Severe Combined Immunodeficiency* / therapy


  • Purine-Nucleoside Phosphorylase