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

Martín Nalda, Andrea; Rivière, Jacques; Catala-Besa, Mireia; García Prat, Marina; Parra Martínez, Alba; Colobran Oriol, Roger; Alonso Garcia, Laura; Arranz Amo, José Antonio; Soler Palacín, Pere; Martínez Gallo, Mónica

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Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening, 2021 (241.4Kb)

Author

Colobran Oriol, Roger

Alonso Garcia, Laura

Arranz Amo, José Antonio

Soler Palacín, Pere

Martínez Gallo, Mónica

Date

2021-12

Permanent link

https://hdl.handle.net/11351/7491

DOI

10.3390/ijns7040062

ISSN

2409-515X

WOS

000743085300001

PMID

34698070

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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.

Keywords

Newborn screening; Severe combined immunodeficiency

Bibliographic citation

Martín-Nalda A, Rivière JG, Català-Besa M, García-Prat M, Parra-Martínez A, Martínez-Gallo M, et al. Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening. Int J Neonatal Screen. 2021 Dec;7(4):62.