{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Speckmann C"],"funding":["Bundesministerium für Bildung und Forschung","Universitätsklinikum Freiburg","National Institute for Health Research (NIHR)","Else Kröner-Fresenius-Stiftung","Wellcome Trust"],"pagination":["965-978"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9968632"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["43(5)"],"pubmed_abstract":["<h4>Backgr ound</h4>T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019.<h4>Methods</h4>Children with abnormal TREC-NBS were referred to a newly established network of Combined Immunodeficiency (CID) Clinics and Centers. The Working Group for Pediatric Immunology (API) and German Society for Newborn Screening (DGNS) performed 6-monthly surveys to assess the TREC-NBS process after 2.5 years.<h4>Results</h4>Among 1.9 million screened newborns, 88 patients with congenital T-cell lymphocytopenia were identified (25 SCID, 17 leaky SCID/Omenn syndrome (OS)/idiopathic T-cell lymphocytopenia, and 46 syndromic disorders). A genetic diagnosis was established in 88%. Twenty-six patients underwent h"],"journal":["Journal of clinical immunology"],"pubmed_title":["Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)."],"pmcid":["PMC9968632"],"funding_grant_id":["2017_A110","EKFS","01GM1910C","222096/Z/20/Z"],"pubmed_authors":["Ehl S","Morbach H","Baumann U","Rothoeft T","Speckmann C","Schuetz C","Borte S","Klingebiel T","Schulz A","Davies EG","Holzer U","Lehmberg K","Klemann C","Hoffmann GF","Meinhardt A","Naumann-Bartsch N","Honig M","Wahn V","Kontny U","Kuehl JS","Bernuth HV","Horster F","Nennstiel U","Hauck F","Schneider DT","Beier R","Ghosh S","Kruger R","Niehues T","Albert MH","Brockow I","Bakhtiar S","Kreins AY"],"additional_accession":[]},"is_claimable":false,"name":"Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).","description":"<h4>Backgr ound</h4>T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019.<h4>Methods</h4>Children with abnormal TREC-NBS were referred to a newly established network of Combined Immunodeficiency (CID) Clinics and Centers. The Working Group for Pediatric Immunology (API) and German Society for Newborn Screening (DGNS) performed 6-monthly surveys to assess the TREC-NBS process after 2.5 years.<h4>Results</h4>Among 1.9 million screened newborns, 88 patients with congenital T-cell lymphocytopenia were identified (25 SCID, 17 leaky SCID/Omenn syndrome (OS)/idiopathic T-cell lymphocytopenia, and 46 syndromic disorders). A genetic diagnosis was established in 88%. Twenty-six patients underwent h","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jul","modification":"2026-03-31T10:38:56.614Z","creation":"2025-08-24T03:08:27.187Z"},"accession":"S-EPMC9968632","cross_references":{"pubmed":["36843153"],"doi":["10.1007/s10875-023-01450-6"]}}