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.
Early diagnosis and treatment of purine nucleoside phosphorylase (Pnp) deficiency through trec-based newborn screening / Martin-Nalda A.; Riviere J.G.; Catala-Besa M.; Garcia-Prat M.; Parra-Martinez A.; Martinez-Gallo M.; Colobran R.; Argudo-Ramirez A.; Marin-Soria J.L.; Garcia-Villoria J.; Alonso L.; Arranz-Amo J.A.; la Marca G.; Soler-Palacin P.. - In: INTERNATIONAL JOURNAL OF NEONATAL SCREENING. - ISSN 2409-515X. - ELETTRONICO. - 7:(2021), pp. 62-66. [10.3390/ijns7040062]
Early diagnosis and treatment of purine nucleoside phosphorylase (Pnp) deficiency through trec-based newborn screening
la Marca G.;
2021
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.
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