Immunologic Research

, Volume 56, Issue 1, pp 150–154

Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency

  • Raz Somech
  • Atar Lev
  • Galia Grisaru-Soen
  • Shelly I. Shiran
  • Amos J. Simon
  • Eyal Grunebaum
Article

DOI: 10.1007/s12026-012-8380-9

Cite this article as:
Somech, R., Lev, A., Grisaru-Soen, G. et al. Immunol Res (2013) 56: 150. doi:10.1007/s12026-012-8380-9

Abstract

Purine nucleoside phosphorylase (PNP) deficiency is an autosomal recessive genetic disorder of the purine salvage pathway, associated with a variable extent of immunodeficiency. Here, we report a PNP-deficient patient who presented early in life with clinical and laboratory characteristics of severe combined immunodeficiency, including severe infections, marked T-and B-cell deficiency, lack of lymphocyte response to mitogenic stimulation, monoclonal T-cell receptors representation and the absence of T-cell receptor excision circles and Kappa-receptor excision circles. The patient carried homozygote mutation at the PNP gene that putatively led to aberrant splicing, allowing normal and abnormally spliced products from the mutant alleles. We suggest that the aberrant slice site was used preferentially over the normal slice site in some cells correlating with the severity of disease.

Keywords

Purine nucleoside phosphorylase PNP SCID Immunodeficiency TREC KREC 

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Raz Somech
    • 1
  • Atar Lev
    • 2
  • Galia Grisaru-Soen
    • 3
  • Shelly I. Shiran
    • 4
  • Amos J. Simon
    • 2
  • Eyal Grunebaum
    • 5
  1. 1.Cancer Research Center, Pediatric Department, Pediatric Immunology Service, Jeffery Modell Foundation (JMF) Center, Edmond and Lily Safra Children’s Hospital, Chaim Sheba Medical Center, Affiliated to the Sackler Faculty of MedicineTel Aviv UniversityTel AvivIsrael
  2. 2.Cancer Research Center, Pediatric Immunology Service, Jeffery Modell Foundation (JMF) Center, Edmond and Lily Safra Children’s Hospital, Chaim Sheba Medical Center, Affiliated to the Sackler Faculty of MedicineTel Aviv UniversityTel AvivIsrael
  3. 3.Pediatric Infectious Diseases Service, Tel Aviv Sourasky Medical Center, National Center for Infection Control, Affiliated to the Sackler Faculty of MedicineTel Aviv UniversityTel AvivIsrael
  4. 4.Pediatric Radiology, Radiology Department, Tel Aviv Sourasky Medical Center, Affiliated to the Sackler Faculty of MedicineTel Aviv UniversityTel AvivIsrael
  5. 5.Division of Immunology and AllergyHospital for Sick Children and University of TorontoTorontoCanada

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