1. Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
- Author
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Ana Argudo-Ramírez, Giancarlo la Marca, Jacques G. Rivière, Judit García-Villoria, Jose Antonio Arranz-Amo, Jose Luis Marín-Soria, Laura C. Alonso, Roger Colobran, Mireia Català-Besa, Pere Soler-Palacín, Alba Parra-Martínez, Marina Garcia-Prat, Andrea Martín-Nalda, Mónica Martínez-Gallo, Institut Català de la Salut, [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, and Vall d'Hebron Barcelona Hospital Campus
- Subjects
inorganic chemicals ,Otros calificadores::/diagnóstico [Otros calificadores] ,Other subheadings::Other subheadings::Other subheadings::/deficiency [Other subheadings] ,Purine nucleoside phosphorylase ,Case Report ,Pediatrics ,RJ1-570 ,Immunology and Microbiology (miscellaneous) ,Liquid chromatography–mass spectrometry ,Cribatge (Medicina) ,Other subheadings::/diagnosis [Other subheadings] ,medicine ,Infants nadons ,heterocyclic compounds ,T-cell receptor excision circle ,Severe combined immunodeficiency ,Newborn screening ,Chemistry ,T-cell receptor excision circles ,newborn screening ,Obstetrics and Gynecology ,Purine nucleoside phosphorylase deficiency ,severe combined immunodeficiency ,medicine.disease ,Molecular biology ,purine nucleoside phosphorylase deficiency ,enfermedades del sistema inmune::síndromes de inmunodeficiencia [ENFERMEDADES] ,enzymes and coenzymes (carbohydrates) ,enzimas y coenzimas::enzimas::transferasas::glicosiltransferasas::pentosiltransferasas::purina-nucleósido fosforilasa [COMPUESTOS QUÍMICOS Y DROGAS] ,Síndromes de deficiència immunitària - Diagnòstic ,PNP Deficiency ,Immune System Diseases::Immunologic Deficiency Syndromes [DISEASES] ,Pediatrics, Perinatology and Child Health ,Otros calificadores::Otros calificadores::Otros calificadores::/deficiencia [Otros calificadores] ,Enzymes and Coenzymes::Enzymes::Transferases::Glycosyltransferases::Pentosyltransferases::Purine-Nucleoside Phosphorylase [CHEMICALS AND DRUGS] - Abstract
Newborn screening; Severe combined immunodeficiency Cribatge nounat; Immunodeficiència combinada severa Cribado neonato; Inmunodeficiencia combinada grave 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. This research was funded by Jeffrey Modell Foundation.
- Published
- 2021