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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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
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author 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
author_facet 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
author_sort Martín-Nalda, Andrea
collection PubMed
description 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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spelling pubmed-85444992021-10-26 Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening 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 Int J Neonatal Screen Case Report 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. MDPI 2021-09-29 /pmc/articles/PMC8544499/ /pubmed/34698070 http://dx.doi.org/10.3390/ijns7040062 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
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
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
title Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
title_full Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
title_fullStr Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
title_full_unstemmed Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
title_short Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
title_sort early diagnosis and treatment of purine nucleoside phosphorylase (pnp) deficiency through trec-based newborn screening
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544499/
https://www.ncbi.nlm.nih.gov/pubmed/34698070
http://dx.doi.org/10.3390/ijns7040062
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