biostudies-literatureSpeckmann CBundesministerium für Bildung und ForschungUniversitätsklinikum FreiburgNational Institute for Health Research (NIHR)Else Kröner-Fresenius-StiftungWellcome Trust965-978https://www.ebi.ac.uk/biostudies/studies/S-EPMC9968632biostudies-literatureUnknown43(5)<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 hJournal of clinical immunologyProspective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).PMC99686322017_A110EKFS01GM1910C222096/Z/20/ZEhl SMorbach HBaumann URothoeft TSpeckmann CSchuetz CBorte SKlingebiel TSchulz ADavies EGHolzer ULehmberg KKlemann CHoffmann GFMeinhardt ANaumann-Bartsch NHonig MWahn VKontny UKuehl JSBernuth HVHorster FNennstiel UHauck FSchneider DTBeier RGhosh SKruger RNiehues TAlbert MHBrockow IBakhtiar SKreins AYfalseProspective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).<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 h2023-01-01T00:00:00Z2023 Jul2026-03-31T10:38:56.614Z2025-08-24T03:08:27.187ZS-EPMC99686323684315310.1007/s10875-023-01450-6