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Speckmann, Carsten; Nennstiel, Uta; Hönig, Manfred; Albert, Michael H.; Ghosh, Sujal; Schuetz, Catharina; Brockow, Inken; Hörster, Friederike; Niehues, Tim; Ehl, Stephan; Wahn, Volker; Borte, Stephan; Lehmberg, Kai; Baumann, Ulrich; Beier, Rita; Krüger, Renate; Bakhtiar, Shahrzad; Kuehl, Joern-Sven; Klemann, Christian; Kontny, Udo; Holzer, Ursula; Meinhardt, Andrea; Morbach, Henner; Naumann-Bartsch, Nora; [...]

Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

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  • Medientyp: E-Artikel
  • Titel: Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
  • Beteiligte: Speckmann, Carsten; Nennstiel, Uta; Hönig, Manfred; Albert, Michael H.; Ghosh, Sujal; Schuetz, Catharina; Brockow, Inken; Hörster, Friederike; Niehues, Tim; Ehl, Stephan; Wahn, Volker; Borte, Stephan; Lehmberg, Kai; Baumann, Ulrich; Beier, Rita; Krüger, Renate; Bakhtiar, Shahrzad; Kuehl, Joern-Sven; Klemann, Christian; Kontny, Udo; Holzer, Ursula; Meinhardt, Andrea; Morbach, Henner; Naumann-Bartsch, Nora; [...]
  • Erschienen: Springer Science and Business Media LLC, 2023
  • Erschienen in: Journal of Clinical Immunology
  • Sprache: Englisch
  • DOI: 10.1007/s10875-023-01450-6
  • ISSN: 0271-9142; 1573-2592
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:sec> <jats:title>Backgr ound</jats:title> <jats:p>T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019.</jats:p> </jats:sec><jats:sec> <jats:title>Methods</jats:title> <jats:p>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.</jats:p> </jats:sec><jats:sec> <jats:title>Results</jats:title> <jats:p>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.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusion</jats:title> <jats:p>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.</jats:p> </jats:sec>