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

Torun B., Bilgin A., ORHAN D., GÖÇMEN R., KILIÇ GÜLTEKİN S. Ş., KUŞKONMAZ B. B., ...More

European Journal of Medical Genetics, vol.65, no.3, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 65 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.1016/j.ejmg.2022.104428
  • Journal Name: European Journal of Medical Genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Keywords: Purine nucleoside phosphorylase, Low uric acid, Severe combined immunodeficiency, T cell deficiency, Hematopoietic stem cell transplantation, TOXIC METABOLITE, TRIPHOSPHATE, DYSFUNCTION, MUTATIONS
  • Hacettepe University Affiliated: Yes


© 2022 Elsevier Masson SASPurine 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.