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

Speckmann C, Nennstiel U, Hoenig M, Albert MH, Ghosh S, Schuetz C, Brockow I, Hoerster F, Niehues T, Ehl S, Wahn V, Borte S, Lehmberg K, Baumann U, Beier R, Krueger R, Bakhtiar S, Kuehl JS, Klemann C, Kontny U, Holzer U, Meinhardt A, Morbach H, Naumann-Bartsch N, Rothoeft T, Kreins AY, Davies EG, Schneider DT, Bernuth HV, Klingebiel T, Hoffmann GF, Schulz A, Hauck F (2023)

Publication Type: Journal article

Publication year: 2023

Journal

DOI: 10.1007/s10875-023-01450-6

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.

Involved external institutions

Universitätsklinikum Ulm Germany (DE) Bayerisches Landesamt für Gesundheit und Lebensmittelsicherheit (LGL) Germany (DE) Charité - Universitätsmedizin Berlin Germany (DE) Ludwig-Maximilians-Universität (LMU) Germany (DE) Albert-Ludwigs-Universität Freiburg Germany (DE) Ruhr-Universität Bochum (RUB) Germany (DE) Heinrich-Heine-Universität Düsseldorf Germany (DE) Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen Germany (DE) Universität Witten/Herdecke Germany (DE) Universität Leipzig Germany (DE) Berliner Institut für Gesundheitsforschung (BIH) Germany (DE) Medizinische Hochschule Hannover (MHH) / Hannover Medical School Germany (DE) Goethe-Universität Frankfurt am Main Germany (DE) Great Ormond Street Hospital (GOSH) United Kingdom (GB) Eberhard Karls Universität Tübingen Germany (DE) Universitätsklinikum Würzburg Germany (DE) Universitätsklinikum Gießen und Marburg (UKGM) Germany (DE) Universitätsklinikum Heidelberg Germany (DE) Universitätsklinikum Hamburg-Eppendorf (UKE) Germany (DE) HELIOS Kliniken Germany (DE) Technische Universität Dresden Germany (DE)

How to cite

APA:

Speckmann, C., Nennstiel, U., Hoenig, M., Albert, M.H., Ghosh, S., Schuetz, C.,... Hauck, F. (2023). Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API). Journal of Clinical Immunology. https://dx.doi.org/10.1007/s10875-023-01450-6

MLA:

Speckmann, Carsten, et al. "Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)." Journal of Clinical Immunology (2023).

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