The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry

Giancarlo la Marca, Elisa Giocaliere, Sabrina Malvagia, Silvia Funghini, Daniela Ombrone, Maria Luisa Della Bona, Clementina Canessa, Francesca Lippi, Francesca Romano, Renzo Guerrini, Massimo Resti, Chiara Azzari

Research output: Contribution to journalArticlepeer-review


Severe combined immunodeficiency due to adenosine-deaminase defect (ADA-SCID) is usually deadly in childhood because of severe recurrent infections. When clinical diagnosis is done, permanent damages due to infections or metabolite accumulation are often present. Gene therapy, bone marrow transplantation or enzyme replacement therapy may be effective if started early. The aim of this study was to set-up a robust method suitable for screening with a minimized preparation process and with inexpensive running costs, for diagnosing ADA-SCID by tandem mass spectrometry. ADA-SCID satisfies all the criteria for inclusion in a newborn screening program.We describe a protocol revised to incorporate adenosine and 2-deoxyadenosine testing into an expanded newborn screening program. We assessed the effectiveness of this approach testing dried blood spots from 4 genetically confirmed early-onset and 5 delayed-onset ADA-SCID patients. Reference values were established on 50,000 healthy newborns (deoxyadenosine

Original languageEnglish
Pages (from-to)201-206
Number of pages6
JournalJournal of Pharmaceutical and Biomedical Analysis
Publication statusPublished - Jan 25 2014


  • Adenosine-deaminase defect
  • Expanded newborn screening
  • LC-MS/MS
  • Second tier test

ASJC Scopus subject areas

  • Analytical Chemistry
  • Drug Discovery
  • Pharmaceutical Science
  • Spectroscopy
  • Clinical Biochemistry


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