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

Autor: Speckmann C; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany. carsten.speckmann@uniklinik-freiburg.de.; Center for Pediatrics and Adolescent Medicine, Department of Pediatric Hematology and Oncology, Faculty of Medicine, Medical Center - University of Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany. carsten.speckmann@uniklinik-freiburg.de., Nennstiel U; Screening Center, Bavarian Health and Food Safety Authority (LGL), Oberschleissheim, Germany., Hönig M; Department of Pediatrics, University Medical Center Ulm, Ulm, Germany., Albert MH; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Ghosh S; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University - University Hospital Düsseldorf, Düsseldorf, Germany., Schuetz C; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Brockow I; Screening Center, Bavarian Health and Food Safety Authority (LGL), Oberschleissheim, Germany., Hörster F; Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany., Niehues T; Center for Pediatrics and Adolescent Medicine, Helios Hospital Krefeld, Krefeld, Germany., Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany., Wahn V; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health (BIH), Berlin, Germany., Borte S; Immuno Deficiency Center Leipzig, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiency Diseases, Hospital St. Georg, 04129, Leipzig, Germany., Lehmberg K; Division of Pediatric Stem Cell Transplantation and Immunology, Clinic for Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Baumann U; Pediatric Hematology and Oncology, Hannover Medical School, Hanover, Germany., Beier R; Pediatric Hematology and Oncology, Hannover Medical School, Hanover, Germany., Krüger R; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health (BIH), Berlin, Germany., Bakhtiar S; Division for Stem Cell Transplantation, Immunology and Intensive Care Medicine, Department for Children and Adolescents, University Hospital Frankfurt, Goethe University, Frankfurt Am Main, Germany., Kuehl JS; Department for Pediatric Immunology, Rheumatology & Infectiology, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany., Klemann C; Department for Pediatric Immunology, Rheumatology & Infectiology, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany., Kontny U; Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany., Holzer U; University Children's Hospital, Eberhard Karls University, Tuebingen, Germany., Meinhardt A; Center for Pediatrics and Adolescent Medicine, Medical Center, University Hospital Giessen, Giessen, Germany., Morbach H; Department of Pediatrics, University Hospital of Würzburg, Würzburg, Germany., Naumann-Bartsch N; Division of Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany., Rothoeft T; Department of Pediatrics, Pediatric Intensive Care Medicine, Catholic Hospital Bochum, Ruhr-University of Bochum, 44791, Bochum, Germany., Kreins AY; Department of Immunology, Great Ormond Street Hospital for Children and UCL Great Ormond Street Institute of Child Health, London, UK., Davies EG; Department of Immunology, Great Ormond Street Hospital for Children and UCL Great Ormond Street Institute of Child Health, London, UK., Schneider DT; Clinic of Pediatrics, Municipal Hospital Dortmund, University Witten-Herdecke, Witten, Germany., Bernuth HV; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health (BIH), Berlin, Germany.; Labor Berlin Charité-Vivantes, Department of Immunology, Berlin, Germany.; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Berlin, Germany., Klingebiel T; Division for Stem Cell Transplantation, Immunology and Intensive Care Medicine, Department for Children and Adolescents, University Hospital Frankfurt, Goethe University, Frankfurt Am Main, Germany., Hoffmann GF; Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany., Schulz A; Department of Pediatrics, University Medical Center Ulm, Ulm, Germany., Hauck F; Divison of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Lindwurmstr. 4, 80337, Munich, Germany. fabian.hauck@med.uni-muenchen.de.
Jazyk: angličtina
Zdroj: Journal of clinical immunology [J Clin Immunol] 2023 Jul; Vol. 43 (5), pp. 965-978. Date of Electronic Publication: 2023 Feb 27.
DOI: 10.1007/s10875-023-01450-6
Abstrakt: Backgr Ound: 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.
(© 2023. The Author(s).)
Databáze: MEDLINE
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