Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

Abstract

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 andPere Soler-Palacín
Int. J. Neonatal Screen. 2021, 7(4), 62; https://doi.org/10.3390/ijns7040062 - 2022
Cited by 3 | Viewed by 3545
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. Full article
(This article belongs to the Special Issue Newborn Screening for Severe Combined Immune Deficiency—Selected Papers from the ISNS-SCID Meeting)
2 pages, 147 KiB
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