Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
Publikation: Beitrag in Fachzeitschrift › Forschungsartikel › Beigetragen › Begutachtung
Beitragende
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 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: The German TREC-NBS represents the largest European SCID screening at this point. The incidence of SCID/leaky SCID/OS in Germany is approximately 1:54,000, very similar to previous observations from North American and European regions and countries where TREC-NBS was implemented. 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.
Details
Originalsprache | Englisch |
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Seiten (von - bis) | 965-978 |
Seitenumfang | 14 |
Fachzeitschrift | Journal of clinical immunology |
Jahrgang | 43 |
Ausgabenummer | 5 |
Publikationsstatus | Veröffentlicht - 27 Feb. 2023 |
Peer-Review-Status | Ja |
Externe IDs
PubMed | 36843153 |
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ORCID | /0009-0003-6519-0482/work/146644420 |
Schlagworte
ASJC Scopus Sachgebiete
Schlagwörter
- HSCT, Hematopoietic stem cell transplantation, NBS, Newborn screening, SCID, Severe combined immunodeficiency, T cell receptor excision circles, TREC, Thymus transplantation, Prospective Studies, Receptors, Antigen, T-Cell/genetics, Humans, Germany/epidemiology, DNA, Lymphopenia/diagnosis, Neonatal Screening/methods, Severe Combined Immunodeficiency/diagnosis, Child, Infant, Newborn