Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

Research output: Contribution to journalArticle


Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect leading to the accumulation of inosine, 2'-deoxy-inosine (dIno), guanosine, and 2'-deoxy-guanosine (dGuo) in all cells, especially lymphocytes. Treatments are available and curative for PNP deficiency, but their efficacy depends on the early approach. PNP-combined immunodeficiency complies with the criteria for inclusion in a newborn screening program.


  • Giancarlo la Marca
  • Clementina Canessa
  • Elisa Giocaliere
  • Francesca Romano
  • Sabrina Malvagia
  • Silvia Funghini
  • Maria Moriondo
  • Claudia Valleriani
  • Francesca Lippi
  • Daniela Ombrone
  • Maria Luisa Della Bona
  • Carsten Speckmann
  • Stephan Borte
  • Nicholas Brodszki
  • Andrew R Gennery
  • Katja Weinacht
  • Fatih Celmeli
  • Julia Pagel
  • Maurizio de Martino
  • Renzo Guerrini
  • And 8 others
  • Helmut Wittkowski
  • Ines Santisteban
  • Pawan Bali
  • Aydan Ikinciogullari
  • Michael Hershfield
  • Luigi D Notarangelo
  • Massimo Resti
  • Chiara Azzari
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Pediatrics
Original languageEnglish
Pages (from-to)155
JournalJournal of Allergy and Clinical Immunology
Issue number1
Publication statusPublished - 2014
Publication categoryResearch