{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:27:33Z","timestamp":1790872053897,"version":"4.1.0"},"reference-count":52,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T00:00:00Z","timestamp":1738195200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Roche Farma"},{"name":"Novartis Gene Therapies (AveXis)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) and severe T- and\/or B-cell lymphopenias (STBCL) in the form of severe combined immunodeficiencies (SCID) or X-linked agammaglobulinemia (XLA) are rare but potentially fatal pathologies. In January 2021, we initiated the first pilot study in Spain to evaluate the efficacy of a very early detection technique for SMA and SCID. RT\u2013PCR was performed on prospectively collected dried blood spots (DBSs) from newborns in Western Andalusia (Spain). Internal and external controls (SCID, XLA and SMA) were included. The determination of SMA was relative (positive\/negative) and that of TRECs and KRECs was quantitative (copies\/punch). A total of 14.035 prospective samples were analysed. All controls were correctly identified while no cases of SMA or SCID\/XLA were prospectively identified. DBS analysis of infants with suspected SMA or STBCL that presented to our centre showed pathological values in two cases each for SMA and SCID and one for XLA, all of them being subsequently confirmed genetically. In this prospective pilot study, no infants with SMA or STBCL were detected; however, the technique applied here was shown to be reliable and fast, further supporting the benefits and need to include SMA and SCID in national newborn screening (NBS) programs, as it will allow early supportive and curative therapy.<\/jats:p>","DOI":"10.3390\/ijns11010011","type":"journal-article","created":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T11:08:23Z","timestamp":1738235303000},"page":"11","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study"],"prefix":"10.3390","volume":"11","author":[{"given":"Beatriz","family":"De Felipe","sequence":"first","affiliation":[{"name":"Pediatrics Infectious Diseases, Rheumatology and Immunology Unit, Institute of Biomedicine of Seville, University Hospital V\u00edrgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Delgado-Pecellin","sequence":"additional","affiliation":[{"name":"Pediatrics Infectious Diseases, Rheumatology and Immunology Unit, Institute of Biomedicine of Seville, University Hospital V\u00edrgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"},{"name":"Clinical Biochemistry Department, University Hospital V\u00edrgen del Roc\u00edo, 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Lopez-Lobato","sequence":"additional","affiliation":[{"name":"Neuropediatric Service, University Hospital V\u00edrgen del Roc\u00edo, 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Olbrich","sequence":"additional","affiliation":[{"name":"Pediatrics Infectious Diseases, Rheumatology and Immunology Unit, Institute of Biomedicine of Seville, University Hospital V\u00edrgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"},{"name":"Department of Pharmacology, Pediatrics and Radiology, University of Seville, 41008 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1893-8198","authenticated-orcid":false,"given":"Pilar","family":"Blanco-Lobo","sequence":"additional","affiliation":[{"name":"Pediatrics Infectious Diseases, Rheumatology and Immunology Unit, Institute of Biomedicine of Seville, University Hospital V\u00edrgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"},{"name":"Department of Pharmacology, Pediatrics and Radiology, University of Seville, 41008 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josefina","family":"Marquez-Fernandez","sequence":"additional","affiliation":[{"name":"Neonatology Unit, Virgen de Valme Hospital, 41018 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Salamanca","sequence":"additional","affiliation":[{"name":"Neonatology Unit, Hospital Universitario Virgen de Macarena, 41008 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Mendoza","sequence":"additional","affiliation":[{"name":"Neonatology Service, Juan Ram\u00f3n Jim\u00e9nez Hospital, 21005 Huelva, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rocio","family":"Castro-Serrano","sequence":"additional","affiliation":[{"name":"Clinical Biochemistry Department, University Hospital V\u00edrgen del Roc\u00edo, 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Duque","sequence":"additional","affiliation":[{"name":"Neonatology Unit, University Hospital V\u00edrgen del Roc\u00edo, 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4537-0852","authenticated-orcid":false,"given":"Mariana","family":"Moreno-Prieto","sequence":"additional","affiliation":[{"name":"Hospital Viamed Santa Angela de la Cruz, Sevilla and Neurolinkia, 41018 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3004-7320","authenticated-orcid":false,"given":"Marcos","family":"Madruga-Garrido","sequence":"additional","affiliation":[{"name":"Hospital Viamed Santa Angela de la Cruz, Sevilla and Neurolinkia, 41018 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose M.","family":"Lucena","sequence":"additional","affiliation":[{"name":"Unidad de Inmunolog\u00eda, University Hospital V\u00edrgen del Roc\u00edo, 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel M.","family":"Fernandez","sequence":"additional","affiliation":[{"name":"Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Ruiz-Camacho","sequence":"additional","affiliation":[{"name":"Neonatology Service, Juan Ram\u00f3n Jim\u00e9nez Hospital, 21005 Huelva, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Varona","sequence":"additional","affiliation":[{"name":"Paediatrics Service of Riotinto Hospital, 21660 Huelva, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Neth","sequence":"additional","affiliation":[{"name":"Pediatrics Infectious Diseases, Rheumatology and Immunology Unit, Institute of Biomedicine of Seville, University Hospital V\u00edrgen del Roc\u00edo\/CSIC\/University of Seville, 41013 Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy\u2014A literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J. 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