0595440781a195213ae381943cb83e27 pmc_34698070.pdf a2433c955fe1b71a11b3721eb8fe63e516d780da pmc_34698070.pdf 5899691d08bbfeac38b5f8df5bb9d5062ca1e3bf971873c4999c53c5bb42ac92 pmc_34698070.pdf Title: Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening Subject: 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 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 and Pere Soler-Palacín Creator: LaTeX with hyperref Producer: pdfTeX-1.40.21 CreationDate: Wed Sep 29 12:29:12 2021 CEST ModDate: Wed Sep 29 12:47:09 2021 CEST Custom Metadata: no Metadata Stream: no Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 5 Encrypted: no Page size: 595.276 x 841.89 pts (A4) Page rot: 0 File size: 247264 bytes Optimized: no PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- CIQLLF+VnURWPalladioL Type 1 Custom yes yes no 10 0 IYQRBX+URWPalladioL-Ital Type 1 Custom yes yes no 15 0 GJBRMA+URWPalladioL-Bold Type 1 Custom yes yes no 20 0 XWIDZM+URWPalladioL-Roma Type 1 Custom yes yes no 24 0 EGFZUW+CMSY10 Type 1 Builtin yes yes no 28 0 AMSWJO+VnURWPalladioL-Bold Type 1 Custom yes yes no 32 0 HVVJIA+TimesNewRomanPS-BoldItalicMT Type 1C WinAnsi yes yes no 40 0 IRWHZX+TimesNewRomanPSMT Type 1C WinAnsi yes yes no 43 0 MCBCCI+SourceSansRoman-Regular Type 1C Custom yes yes no 65 0 MCBCCM+SourceSansRoman.613wght Type 1C Custom yes yes no 69 0 MCBCCO+SourceSansRoman-Bold Type 1C Custom yes yes no 73 0 KNPFEX+EURM10 Type 1 Builtin yes yes no 85 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2024-10-02 03:38:32 CEST RepresentationInformation: pmc_34698070.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2023-03-31 12:06:02 CEST Size: 247264 Format: PDF Version: 1.7 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 193 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: Background Destination: section.1 Item: Title: Case Presentation Destination: section.2 Item: Title: Discussion Destination: section.3 Item: Title: References Destination: section.3 Info: Title: Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening 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 and Pere Soler-Palacín Subject: 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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