International Journal of Neonatal Screening (Sep 2021)
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
- 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
Affiliations
- Andrea Martín-Nalda
- Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
- Jacques G. Rivière
- Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
- Mireia Català-Besa
- Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
- Marina García-Prat
- Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
- Alba Parra-Martínez
- Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
- Mónica Martínez-Gallo
- Immunology Division, Hospital Universitari Vall d’Hebron, Institut de Recerca Vall d’Hebron, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
- Roger Colobran
- Immunology Division, Hospital Universitari Vall d’Hebron, Institut de Recerca Vall d’Hebron, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
- Ana Argudo-Ramírez
- Newborn Screening Laboratory, Inborn Errors of Metabolism Division, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, 08036 Barcelona, Spain
- Jose Luis Marín-Soria
- Newborn Screening Laboratory, Inborn Errors of Metabolism Division, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, 08036 Barcelona, Spain
- Judit García-Villoria
- Inborn Errors of Metabolism Division, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, 08036 Barcelona, Spain
- Laura Alonso
- Pediatric Oncology and Hematology Department, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
- Jose Antonio Arranz-Amo
- Metabolic Diseases Laboratory, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
- Giancarlo la Marca
- Department of Experimental and Clinical Biomedical Sciences, University of Florence and Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children’s University Hospital, 50139 Florence, Italy
- Pere Soler-Palacín
- Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d’Hebron, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, 08035 Barcelona, Spain
- DOI
- https://doi.org/10.3390/ijns7040062
- Journal volume & issue
-
Vol. 7,
no. 4
p. 62
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.
Keywords
- purine nucleoside phosphorylase deficiency
- severe combined immunodeficiency
- newborn screening
- T-cell receptor excision circle
