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

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 d...

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Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2021-09-01
Edice:	International Journal of Neonatal Screening
Témata:	purine nucleoside phosphorylase deficiency severe combined immunodeficiency newborn screening T-cell receptor excision circle
On-line přístup:	https://www.mdpi.com/2409-515X/7/4/62
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