Newborn screening for SCID and severe T lymphocytopenia in Europe - 20/11/24

Doi : 10.1016/j.jaci.2024.10.018

Maartje Blom, MD, PhD ^a, Maarja Soomann, MD ^b, Pere Soler-Palacín, MD, PhD ^c, Anna Šedivá, MD, PhD ^d, Asbjørg Stray-Pedersen, MD, PhD ^e, Rolf Zetterström, MD, PhD ^f, Carsten Speckmann, MD ^g,^h, Andrew R. Gennery, MD, PhD ⁱ, Mirjam van der Burg, PhD ^a,^⁎
^a Laboratory for Paediatric Immunology, Willem-Alexander Children’s Hospital, Leiden University Medical Center, Leiden, The Netherlands
^b Division of Immunology and the Children’s Research Center, University Children’s Hospital Zurich, University of Zurich, Zurich, Switzerland
^c Pediatric Infectious Diseases and Immunodeficiencies Unit, Children’s Hospital, Vall d’Hebron Barcelona Hospital, Barcelona, Spain
^d Department of Immunology, 2nd Faculty of Medicine Charles University and Motol University Hospital, Prague, Czech Republic
^e Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital–Rikshospitalet, Oslo, Norway
^f Center for Inherited Metabolic Diseases, Karolinska University Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
^g Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany
^h Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany
ⁱ Translational and Clinical Research Institute, Newcastle University, and Paediatric Haematopoietic Stem Cell Transplant Unit, Great North Children’s Hospital, Newcastle upon Tyne, United Kingdom

^∗Corresponding author: Mirjam van der Burg, PhD, Laboratory for Paediatric Immunology, Willem-Alexander Children’s Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.Laboratory for Paediatric ImmunologyWillem-Alexander Children’s HospitalLeiden University Medical CenterAlbinusdreef 2Leiden2333 ZAThe Netherlands

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Abstract

Initiation of newborn screening (NBS) programs in Europe dates back to the 1960s. One of the most recent expansions of NBS programs was the addition of severe combined immunodeficiency (SCID) based on detection of T-cell receptor excision circles (TRECs). In this review, we present an overview of the current situation in Europe. To avoid a biased overview based on only published results, a 37-item survey on TREC-based NBS was sent to representatives of 46 European countries. With a response rate of 83%, we collected data of 38 countries. Seventeen of the 38 European countries that have completed the survey have nationally or regionally implemented TREC-based NBS. The survey results emphasize similarities and differences as well as common practices and challenges in TREC-based NBS. Because TRECs are a general surrogate marker for severe T lymphocytopenia, conditions other than SCID are also identified. Therefore, the initial definition of the target disease as “SCID” might need to be reconsidered and extended to “SCID and severe T lymphocytopenia.” Even though complete harmonization of TREC-based NBS programs across Europe will remain challenging, collaboration and close partnerships will help in the move toward universal TREC-based screening for all newborns, resulting in more infants with SCID and severe T lymphocytopenia being detected each year.

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Key words : Newborn screening, NBS, severe combined immunodeficiency, SCID, severe T lymphocytopenia, TREC, inborn errors of immunity, IEI, Europe

Abbreviations used : ADA, BCG, CHARGE syndrome, HSCT, IEI, ITL, KREC, NBS, SCID, TREC