Journal Article

The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency

Guerrini, Renzo, Samonenko, Nataliia, Damiano, Roberta, Speckmann, Carsten, Cericola, Gabriella, la Marca, Giancarlo, Bettiol, Alessandra, Mytsyk, Nataliia, Olkhovich, Nataliia

2025

Overview

Ukraine’s healthcare system has shown remarkable resilience in continuing newborn screening (NBS), beyond the challenges of war. Amid the conflict, a Ukrainian newborn screened positive for an extremely rare severe combined immunodeficiency (SCID)–purine nucleoside phosphorylase (PNP) deficiency. Ukraine successfully carried out NBS on a neonatal dried blood spot (DBS) by real-time PCR, which showed remarkably reduced T-cell receptor and kappa-deleting recombination excision circles (TREC/KREC). Retesting was delayed due to communication difficulties with the family. Whole exome sequencing on a new DBS confirmed the diagnosis. The newborn was a candidate for allogeneic hematopoietic stem cell transplantation (HSCT), the only curative treatment. HSCT is a complex procedure still ongoing in Ukraine despite the conflict. However, due to the psychosocial strain, the family sought medical support in Germany, where HSCT was performed successfully at 6 months. As part of a collaborative initiative with Italy, PNP biomarkers were quantified on the same DBSs using tandem mass spectrometry, according to the protocols established for SCID NBS in Tuscany, serving as a proof of concept of its diagnostic performance. This case highlights the importance of sustaining preventive and life-saving healthcare services, and reflects the key role of international partnerships in upholding the right to healthcare in times of crisis.

• Publisher: MDPI AG,Multidisciplinary Digital Publishing Institute (MDPI)
• Subject: Adenosine / B cells / BCG / BCG vaccines / Biomarkers / Case Report / Case reports / Collaboration / Disease prevention / Enzymes / Flow cytometry / Health care industry / Hematopoietic stem cells / Hospitals / Immune system / Immunodeficiency / Immunoglobulins / Infants (Newborn) / Infections / International cooperation / Mass spectrometry / Medical screening / Metabolism / Metabolites / Mutation / Newborn babies / newborn screening / Nucleosides / Pneumonia / public health / purine nucleoside phosphorylase deficiency / Scientific imaging / severe combined immunodeficiency / T cells / tandem mass spectrometry / Transplantation / Vaccines / war