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...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-09-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/7/4/62 |
| _version_ | 1797503738380812288 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Andrea Martín-Nalda |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T03:54:37Z |
| format | Article |
| id | doaj.art-67505ccc46de4f559ec9de3e4565cc0d |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-10T03:54:37Z |
| publishDate | 2021-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-67505ccc46de4f559ec9de3e4565cc0d2023-11-23T08:49:57ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2021-09-01746210.3390/ijns7040062Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn ScreeningAndrea Martín-Nalda0Jacques G. Rivière1Mireia Català-Besa2Marina García-Prat3Alba Parra-Martínez4Mónica Martínez-Gallo5Roger Colobran6Ana Argudo-Ramírez7Jose Luis Marín-Soria8Judit García-Villoria9Laura Alonso10Jose Antonio Arranz-Amo11Giancarlo la Marca12Pere Soler-Palacín13Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, SpainPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, SpainPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, SpainPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, SpainPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, SpainImmunology Division, Hospital Universitari Vall d’Hebron, Institut de Recerca Vall d’Hebron, Universitat Autònoma de Barcelona, 08035 Barcelona, SpainImmunology Division, Hospital Universitari Vall d’Hebron, Institut de Recerca Vall d’Hebron, Universitat Autònoma de Barcelona, 08035 Barcelona, SpainNewborn Screening Laboratory, Inborn Errors of Metabolism Division, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, 08036 Barcelona, SpainNewborn Screening Laboratory, Inborn Errors of Metabolism Division, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, 08036 Barcelona, SpainInborn Errors of Metabolism Division, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, 08036 Barcelona, SpainPediatric Oncology and Hematology Department, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, SpainMetabolic Diseases Laboratory, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, SpainDepartment of Experimental and Clinical Biomedical Sciences, University of Florence and Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children’s University Hospital, 50139 Florence, ItalyPediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, SpainPurine 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.https://www.mdpi.com/2409-515X/7/4/62purine nucleoside phosphorylase deficiencysevere combined immunodeficiencynewborn screeningT-cell receptor excision circle |
| spellingShingle | 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 Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening International Journal of Neonatal Screening purine nucleoside phosphorylase deficiency severe combined immunodeficiency newborn screening T-cell receptor excision circle |
| 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 | purine nucleoside phosphorylase deficiency severe combined immunodeficiency newborn screening T-cell receptor excision circle |
| url | https://www.mdpi.com/2409-515X/7/4/62 |
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