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...

Descripción completa

Detalles Bibliográficos
Autores principales: Martín-Nalda, Andrea, Rivière, Jacques G., Català-Besa, Mireia, García-Prat, Marina, Parra-Martínez, Alba, Martínez-Gallo, Mónica, Colobran, Roger, Argudo-Ramírez, Ana, Marín-Soria, Jose Luis, García-Villoria, Judit, Alonso, Laura, Arranz-Amo, Jose Antonio, la Marca, Giancarlo, Soler-Palacín, Pere
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544499/
https://www.ncbi.nlm.nih.gov/pubmed/34698070
http://dx.doi.org/10.3390/ijns7040062
Descripción
Sumario: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.

Ejemplares similares