NEOSKID study: Four years of experience in newborn screening for severe combined immunodeficiencies in the Pays de la Loire region of France - 05/11/25

Doi : 10.1016/j.arcped.2025.07.004

Marie Rimbert ^a,^h, Marie Audrain ^a, Alexandra Léger ^b, Charline Miot ^c,^d, Aurélie Fantou ^a, Caroline Hémont ^a, Lea Lemoine ^a, Caroline Poli ^d, Isabelle Pellier ^c, Aurore Catteau ^e, Gervaise Hubert ^b,^h, Jérôme Martin ^a,^f,^h, Audrey Grain ^b,^g, Caroline Thomas ^b,^h,^⁎

^a CHU de Nantes, Nantes Université, Laboratoire d'Immunologie, CIMNA, Nantes, France

^b CHU de Nantes, Service D’hématologie et D’immunologie Pédiatrique, Hôpital Mère-Enfants, France

^c CHU d’Angers Service D’hématologie et D’immunologie Pédiatrique, France

^d CHU d’Angers, Angers Université, Nantes Université, Laboratoire D’immunologie, Inserm, CNRS, CRCI2NA, SFR ICAT, Angers F-49000, France

^e CHU de Nantes Centre Régional de Dépistage Néonatal (CRDN), France

^f CHU de Nantes, Nantes Université, Inserm, Centre de Recherche Translationnelle en Transplantation et Immunologie, UMR 1064, Nantes, France

^g CHU de Nantes, Nantes Université, Inserm UMR 1307, France

^h Centre De Référence constitutif Des Déficits Immunitaires Primitifs, French National Register of Patients with Primary Immunodeficiencies, CHU de Nantes, France

^⁎ Corresponding author at: CHU de Nantes, Service D’hématologie et D’immunologie Pédiatrique, Hôpital Mère-Enfants, France. CHU de Nantes, Service D’hématologie et D’immunologie Pédiatrique, Hôpital Mère-Enfants France

Sous presse. Épreuves corrigées par l'auteur. Disponible en ligne depuis le Wednesday 05 November 2025

Abstract

In this article, we report the results of four years (2019–2023) of newborn blood spot screening for severe lymphopenia using TREC (T-cell receptor excision circle) quantification in the Pays de la Loire region in France. Our main objective was to analyze underlying causes of T-cell lymphopenia revealed by positive testing. During the study period, 156,892 newborns were screened and ten were identified with T-cell lymphopenia (1/13,260 births), of whom three were diagnosed with severe combined immunodeficiencies (SCID: 1/40,000 births). Our results confirm data from international reports and our previous nationwide study (DEPISTREC; 2015 to 2017). We conclude that routine newborn screening for T-cell lymphopenia is operational to detect and swiftly treat infants with SCID.

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Keywords : Severe combined immunodeficiency, Newborn screening, TRECs