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

Child Infant, Newborn Humans Neonatal Screening / methods Severe Combined Immunodeficiency / diagnosis Prospective Studies Lymphopenia / diagnosis DNA Germany / epidemiology Receptors, Antigen, T-Cell / genetics
HSCT Hematopoietic stem cell transplantation NBS Newborn screening SCID Severe combined immunodeficiency T cell receptor excision circles TREC Thymus transplantation

Journal

Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137

Informations de publication

Date de publication:
07 2023
Historique:
received: 20 12 2022
accepted: 08 02 2023
medline: 19 6 2023
pubmed: 28 2 2023
entrez: 27 2 2023
Statut: ppublish

Résumé

T-cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiencies (SCID) was introduced in Germany in August 2019. 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. 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. 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.

Identifiants

DOI: 10.1007/s10875-023-01450-6 PMID: 36843153 PMC: PMC9968632
pubmed: 36843153
doi: 10.1007/s10875-023-01450-6
pii: 10.1007/s10875-023-01450-6
pmc: PMC9968632
doi:

Substances chimiques

DNA 9007-49-2
Receptors, Antigen, T-Cell 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

965-978

Subventions

Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 222096/Z/20/Z
Pays : United Kingdom
Organisme : Department of Health
Pays : United Kingdom

Informations de copyright

© 2023. The Author(s).

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Auteurs

Carsten 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.
ORCID: 0000-0002-6217-1556

Uta Nennstiel (U)

Screening Center, Bavarian Health and Food Safety Authority (LGL), Oberschleissheim, Germany.

Manfred Hönig (M)

Department of Pediatrics, University Medical Center Ulm, Ulm, Germany.

Michael H Albert (MH)

Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.

Sujal Ghosh (S)

Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University - University Hospital Düsseldorf, Düsseldorf, Germany.

Catharina Schuetz (C)

Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

Inken Brockow (I)

Screening Center, Bavarian Health and Food Safety Authority (LGL), Oberschleissheim, Germany.

Friederike Hörster (F)

Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.

Tim Niehues (T)

Center for Pediatrics and Adolescent Medicine, Helios Hospital Krefeld, Krefeld, Germany.

Stephan Ehl (S)

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.

Volker 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.

Stephan Borte (S)

Immuno Deficiency Center Leipzig, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiency Diseases, Hospital St. Georg, 04129, Leipzig, Germany.

Kai Lehmberg (K)

Division of Pediatric Stem Cell Transplantation and Immunology, Clinic for Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Ulrich Baumann (U)

Pediatric Hematology and Oncology, Hannover Medical School, Hanover, Germany.

Rita Beier (R)

Pediatric Hematology and Oncology, Hannover Medical School, Hanover, Germany.

Renate 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.

Shahrzad 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.

Joern-Sven Kuehl (JS)

Department for Pediatric Immunology, Rheumatology & Infectiology, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.

Christian Klemann (C)

Department for Pediatric Immunology, Rheumatology & Infectiology, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.

Udo Kontny (U)

Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.

Ursula Holzer (U)

University Children's Hospital, Eberhard Karls University, Tuebingen, Germany.

Andrea Meinhardt (A)

Center for Pediatrics and Adolescent Medicine, Medical Center, University Hospital Giessen, Giessen, Germany.

Henner Morbach (H)

Department of Pediatrics, University Hospital of Würzburg, Würzburg, Germany.

Nora Naumann-Bartsch (N)

Division of Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.

Tobias Rothoeft (T)

Department of Pediatrics, Pediatric Intensive Care Medicine, Catholic Hospital Bochum, Ruhr-University of Bochum, 44791, Bochum, Germany.

Alexandra Y Kreins (AY)

Department of Immunology, Great Ormond Street Hospital for Children and UCL Great Ormond Street Institute of Child Health, London, UK.

E Graham Davies (EG)

Department of Immunology, Great Ormond Street Hospital for Children and UCL Great Ormond Street Institute of Child Health, London, UK.

Dominik T Schneider (DT)

Clinic of Pediatrics, Municipal Hospital Dortmund, University Witten-Herdecke, Witten, Germany.

Horst V 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.

Thomas 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.

Georg F Hoffmann (GF)

Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.

Ansgar Schulz (A)

Department of Pediatrics, University Medical Center Ulm, Ulm, Germany.

Fabian 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.
ORCID: 0000-0001-9644-2003

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Classifications MeSH

Recherchemedicale.com › Personnes › Tranches d'âge › Enfant › Prospective Newborn Screening for SCID in...
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