Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients

Eur J Med Genet. 2022 Mar;65(3):104428. doi: 10.1016/j.ejmg.2022.104428. Epub 2022 Jan 19.


Purine nucleoside phosphorylase (PNP) is a key enzyme in the purine salvage pathway. PNP deficiency, caused by the autosomal recessive mutations in the PNP gene, can lead to severe combined immunodeficiency (SCID). PNP deficiency patients typically have profound T-cell deficiency with variable B and NK cell functions. They present clinically with recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Hematopoietic stem cell transplantation (HSCT) is the only available cure for patients with PNP deficiency. We present three patients, two of whom were successfully treated with HSCT. One patient died prior to HSCT due to EBV-associated lymphoma. Over the course of post-HSCT, there was no further aggravation of the patients' neurological symptoms. Although both of the patients still had mild developmental delay, new developmental milestones were achieved.

Keywords: Hematopoietic stem cell transplantation; Low uric acid; Purine nucleoside phosphorylase; Severe combined immunodeficiency; T cell deficiency.

MeSH terms

  • Humans
  • Immunologic Deficiency Syndromes* / genetics
  • Primary Immunodeficiency Diseases* / genetics
  • Purine-Nucleoside Phosphorylase / deficiency
  • Purine-Nucleoside Phosphorylase / genetics
  • Purine-Pyrimidine Metabolism, Inborn Errors* / diagnosis
  • Purine-Pyrimidine Metabolism, Inborn Errors* / genetics


  • Purine-Nucleoside Phosphorylase

Supplementary concepts

  • Purine Nucleoside Phosphorylase Deficiency