Published in
MDPI, International Journal of Neonatal Screening, 4(7), p. 62, 2021
DOI: 10.3390/ijns7040062
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Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
Journal article published in 2021 by
Andrea Martín-Nalda,
Jacques G. Rivière 
,
Mireia Català-Besa ,
Marina García-Prat,
Alba Parra-Martínez ,
Mónica Martínez-Gallo ,
Roger Colobran ,
Ana Argudo-Ramírez ,
Jose Luis Marín-Soria,
Judit García-Villoria,
Laura Alonso,
Jose Antonio Arranz-Amo,
Giancarlo la Marca ,
Pere Soler-Palacín
,
Mireia Català-Besa ,
Marina García-Prat,
Alba Parra-Martínez ,
Mónica Martínez-Gallo ,
Roger Colobran ,
Ana Argudo-Ramírez ,
Jose Luis Marín-Soria,
Judit García-Villoria,
Laura Alonso,
Jose Antonio Arranz-Amo,
Giancarlo la Marca ,
Pere Soler-Palacín
This paper is made freely available by the publisher.
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Abstract
Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP deficiency was detected by TREC analysis.