Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

Martín Nalda, Andrea; Rivière, Jacques; Catala-Besa, Mireia; García Prat, Marina; Parra Martínez, Alba; Colobran Oriol, Roger; Alonso Garcia, Laura; Arranz Amo, José Antonio; Soler Palacín, Pere; Martínez Gallo, Mónica

dc.contributor	Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author	Martín Nalda, Andrea
dc.contributor.author	Rivière, Jacques
dc.contributor.author	Catala-Besa, Mireia
dc.contributor.author	García Prat, Marina
dc.contributor.author	Parra Martínez, Alba
dc.contributor.author	Colobran Oriol, Roger
dc.contributor.author	Alonso Garcia, Laura
dc.contributor.author	Arranz Amo, José Antonio
dc.contributor.author	Soler Palacín, Pere
dc.contributor.author	Martínez Gallo, Mónica
dc.date.accessioned	2022-05-06T12:48:12Z
dc.date.available	2022-05-06T12:48:12Z
dc.date.issued	2021-12
dc.identifier.citation	Martín-Nalda A, Rivière JG, Català-Besa M, García-Prat M, Parra-Martínez A, Martínez-Gallo M, et al. Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening. Int J Neonatal Screen. 2021 Dec;7(4):62.
dc.identifier.issn	2409-515X
dc.identifier.uri	https://hdl.handle.net/11351/7491
dc.description	Newborn screening; Severe combined immunodeficiency
dc.description.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.
dc.language.iso	eng
dc.publisher	MDPI
dc.relation.ispartofseries	International Journal of Neonatal Screening;7(4)
dc.rights	Attribution 4.0 International
dc.rights.uri	http://creativecommons.org/licenses/by/4.0/
dc.source	Scientia
dc.subject	Síndromes de deficiència immunitària - Diagnòstic
dc.subject	Cribatge (Medicina)
dc.subject	Infants nadons
dc.subject.mesh	Purine-Nucleoside Phosphorylase
dc.subject.mesh	/deficiency
dc.subject.mesh	Immunologic Deficiency Syndromes
dc.subject.mesh	/diagnosis
dc.title	Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
dc.type	info:eu-repo/semantics/article
dc.identifier.doi	10.3390/ijns7040062
dc.subject.decs	purina-nucleósido fosforilasa
dc.subject.decs	/deficiencia
dc.subject.decs	síndromes de inmunodeficiencia
dc.subject.decs	/diagnóstico
dc.relation.publishversion	https://doi.org/10.3390/ijns7040062
dc.type.version	info:eu-repo/semantics/publishedVersion
dc.audience	Professionals
dc.contributor.organismes	Institut Català de la Salut
dc.contributor.authoraffiliation	[Martín-Nalda A, Rivière JG, Català-Besa M, García-Prat M, Parra-Martínez A, Soler-Palacín P] Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Martínez-Gallo M] Divisió d’Immunologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, 08035 Barcelona, Spain. Grup de Recerca en Immunologia Diagnòstica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Biologia Cel•lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Colobran R] Divisió d’Immunologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, 08035 Barcelona, Spain. Grup de Recerca en Immunologia Diagnòstica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Biologia Cel•lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Genètica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Alonso L] Servei d’Oncologia i Hematologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Arranz-Amo JA] Laboratori de Malalties Metabòliques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain
dc.identifier.pmid	34698070
dc.identifier.wos	000743085300001
dc.rights.accessrights	info:eu-repo/semantics/openAccess