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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التفاصيل البيبلوغرافية
الحاوية / القاعدة:International Journal of Neonatal Screening
المؤلفون الرئيسيون: 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
التنسيق: مقال
اللغة:الإنجليزية
منشور في: MDPI AG 2021-09-01
الموضوعات:
purine nucleoside phosphorylase deficiency
severe combined immunodeficiency
newborn screening
T-cell receptor excision circle
الوصول للمادة أونلاين:https://www.mdpi.com/2409-515X/7/4/62
الوصف
الملخص: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.
تدمد:2409-515X

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