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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Detalhes bibliográficos
Autores: Martín-Nalda, Andrea|||0000-0002-1715-153X, Rivière, Jacques G.|||0000-0003-1055-2063, Català-Besa, Mireia|||0000-0003-2655-3458, Garcia Prat, Marina, Parra-Martínez, Alba|||0000-0002-9564-8912, Martínez Gallo, Mónica|||0000-0002-7340-2161, Colobrán Oriol, Roger|||0000-0002-5964-536X, Argudo-Ramírez, Ana|||0000-0001-6069-7370, Marín Soria, Jose Luis, García Villoria, Judit, Alonso, Laura|||0000-0002-7835-1594, Arranz-Amo, Jose Antonio|||0000-0002-2236-4185, la Marca, Giancarlo, Soler-Palacín, Pere|||0000-0002-0346-5570
Formato: artículo
Fecha de publicación:2021
País:España
Recursos:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:293120
Acesso em linha:https://ddd.uab.cat/record/293120
https://dx.doi.org/urn:doi:10.3390/ijns7040062
Access Level:acceso abierto
Palavra-chave:Purine nucleoside phosphorylase deficiency
Severe combined immunodeficiency
Newborn screening
T-cell receptor excision circle
Descrição
Resumo: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.

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