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Case Reports
. 2025 Sep 16;11(3):79.
doi: 10.3390/ijns11030079.

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

Alessandra Bettiol  1 , Roberta Damiano  2 , Nataliia Mytsyk  3 , Nataliia Samonenko  3 , Gabriella Cericola  4 , Carsten Speckmann  4   5 , Nataliia Olkhovich  3 , Renzo Guerrini  6   7 , Giancarlo la Marca  1   2
Affiliations
Case Reports

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

Alessandra Bettiol et al. Int J Neonatal Screen. .

Abstract

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.

Keywords: dried blood spot; newborn screening; public health; purine nucleoside phosphorylase deficiency; severe combined immunodeficiency; tandem mass spectrometry; war.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Graphical representation of the clinical and analytical workflow in the framework of an international partnership between Ukraine, Germany, and Italy.
Figure 2
Figure 2
(A,B) FIA-MS/MS and (C) LC-MS/MS experiments show increased concentrations of Guo, dGuo, Ino, and dIno in the neonatal DBS sample (collected at 2 days of life) of the patient with PNP SCID (B,C) as compared to a control newborn (A). FIA: flow injection analysis; IS: Internal Standard; LC: liquid chromatography; MS/MS: tandem mass spectrometry; PNP: purine nucleoside phosphorylase; SCID: severe combined immunodeficiency.
See this image and copyright information in PMC

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