Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
Andrea Martín-Nalda, Jacques G. Rivière, Mireia Català-Besa, Marina García-Prat, Alba Parra-Martínez, Mónica Martínez‐Gallo, Roger Colobrán, Ana Argudo‐Ramírez, José Luís Marín-Soria, Judit García‐Villoria, Laura Alonso, Jose Antonio Arranz-Amo, Giancarlo la Marca, Pere Soler‐Palacín
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.
Topics & Concepts
Purine nucleoside phosphorylaseNewborn screeningPurineNucleosidePurine metabolismMedicineChemistryBiochemistryEnzymePediatricsImmunodeficiency and Autoimmune DisordersBlood disorders and treatmentsCytomegalovirus and herpesvirus research