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• W4313330166 abstract "Abstract Background T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019. Methods 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. Results 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 hematopoietic stem cell transplantation (HSCT), 23/26 within 4 months of life. Of these, 25/26 (96%) were alive at last follow-up. Two patients presented with in-utero onset OS and died shortly after birth. Five patients with syndromic disorders underwent thymus transplantation. Eight syndromic patients deceased, all from non-immunological complications. TREC-NBS missed one patient, who later presented clinically, and one tracking failure occurred after an inconclusive screening result. Conclusion TREC-NBS was successfully incorporated into German NBS and represents the largest prospective European TREC-NBS cohort at this point. The incidence of SCID/leaky SCID/OS in Germany is approximately 1:54.000. The overall incidence of severe congenital T-cell lymphocytopenia is 1:21.000. The newly founded API-CID network facilitates tracking and treatment of identified patients. Short-term HSCT outcome was excellent, but NBS and transplant registries will remain essential to evaluate the long-term outcome and to compare results across the rising numbers of TREC-NBS programs across Europe." @default.
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• W4313330166 date "2022-12-29" @default.
• W4313330166 modified "2023-09-25" @default.
• W4313330166 title "Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)" @default.
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• W4313330166 doi "https://doi.org/10.21203/rs.3.rs-2394259/v1" @default.
• W4313330166 hasPublicationYear "2022" @default.
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