{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:22:58Z","timestamp":1790900578232,"version":"4.1.0"},"reference-count":53,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,4,11]],"date-time":"2023-04-11T00:00:00Z","timestamp":1681171200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Inborn errors of immunity (IEI) are a group of over 450 genetically distinct conditions associated with significant morbidity and mortality, for which early diagnosis and treatment improve outcomes. Newborn screening for severe combined immunodeficiency (SCID) is currently underway in several countries, utilising a DNA-based technique to quantify T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC). This strategy will only identify those infants with an IEI associated with T and\/or B cell lymphopenia. Other severe forms of IEI will not be detected. Up-front, first-tier genomic-based newborn screening has been proposed as a potential approach by which to concurrently screen infants for hundreds of monogenic diseases at birth. Given the clinical, phenotypic and genetic heterogeneity of IEI, a next-generation sequencing-based newborn screening approach would be suitable. There are, however, several ethical, legal and social issues which must be evaluated in detail prior to adopting a genomic-based newborn screening approach, and these are discussed herein in the context of IEI.<\/jats:p>","DOI":"10.3390\/ijns9020022","type":"journal-article","created":{"date-parts":[[2023,4,12]],"date-time":"2023-04-12T01:35:08Z","timestamp":1681263308000},"page":"22","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6783-4830","authenticated-orcid":false,"given":"Jovanka R.","family":"King","sequence":"first","affiliation":[{"name":"Department of Allergy & Clinical Immunology, Women\u2019s and Children\u2019s Hospital Network, North Adelaide, SA 5006, Australia"},{"name":"Immunology Directorate, SA Pathology, Adelaide, SA 5000, Australia"},{"name":"Robinson Research Institute and Discipline of Paediatrics, School of Medicine, University of Adelaide, North Adelaide, SA 5006, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalle","family":"Grill","sequence":"additional","affiliation":[{"name":"Department of Historical, Philosophical and Religious Studies, Ume\u00e5 University, SE-90187 Ume\u00e5, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lennart","family":"Hammarstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Biosciences and Nutrition, Neo, Karolinska Institutet, SE-14183 Huddinge, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1542\/peds.105.1.89","article-title":"The discovery of phenylketonuria: The story of a young couple, two retarded children, and a scientist","volume":"105","author":"Centerwall","year":"2000","journal-title":"Pediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s12687-020-00488-y","article-title":"Neonatal and carrier screening for rare diseases: How innovation challenges screening criteria worldwide","volume":"12","author":"Cornel","year":"2021","journal-title":"J. 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