Managing non-SCID T cell lymphopenia after TREC-based newborn screening

Newborn screening (NBS) for severe combined immunodeficiency (SCID), based on quantifying T cell receptor excision circles (TRECs), has been increasingly implemented in screening programs worldwide. Unlike many other disorders in NBS, TREC-based screening detects many secondary findings and additional causes for T cell lymphopenia other than SCID. The clinical follow-up of SCID patients has been well implemented and documented, but newborns with other forms of T cell lymphopenia pose a new challenge for pediatric immunologists on how to offer optimal clinical management. Systematic evaluation of follow-up outcomes is crucial to establish consensus on clinical management of these patients. Here, we present clinical follow-up data of 6.5 years of NBS for SCID in the Netherlands, aiming to identify key challenges and provide recommendations. These results underscore the importance of preventing overtreatment and avoiding unnecessary prolonged follow-up and highlight the value of appropriate genetic testing and counseling. Finally, we demonstrate the critical role of international data exchange in establishing evidence-based recommendations.

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Publication Details

Journal
Journal of Human Immunity
Published
2026-01-07
DOI
https://doi.org/10.70962/jhi.20250205
Primary Topic
Immunodeficiency and Autoimmune Disorders
Type
article
Field-Weighted Citation Impact
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article

Managing non-SCID T cell lymphopenia after TREC-based newborn screening

Gert Weijman, Mariëlle van Gijn, Robbert G.M Bredius, Maartje Blom et al.
Journal of Human Immunity
Immunodeficiency and Autoimmune Disorders
article

Managing non-SCID T cell lymphopenia after TREC-based newborn screening

Gert Weijman, Mariëlle van Gijn, Robbert G.M Bredius, Maartje Blom, Evelien A. Kemper, Evelien Zonneveld‐Huijssoon, Els Voorhoeve, Lisette van de Corput, T. W. Taco Kuijpers, Liesbeth Schölvinck, Mirjam van der Burg, Gijs TJ van Well, Stefanie Henriet, Annelotte J. Duintjer, Clementien L. Vermont, J. Merlijn van den Berg, Joris M. van Montfrans, Willem A. Dik, G. Elizabeth Legger
article en

Abstract

Newborn screening (NBS) for severe combined immunodeficiency (SCID), based on quantifying T cell receptor excision circles (TRECs), has been increasingly implemented in screening programs worldwide. Unlike many other disorders in NBS, TREC-based screening detects many secondary findings and additional causes for T cell lymphopenia other than SCID. The clinical follow-up of SCID patients has been well implemented and documented, but newborns with other forms of T cell lymphopenia pose a new challenge for pediatric immunologists on how to offer optimal clinical management. Systematic evaluation of follow-up outcomes is crucial to establish consensus on clinical management of these patients. Here, we present clinical follow-up data of 6.5 years of NBS for SCID in the Netherlands, aiming to identify key challenges and provide recommendations. These results underscore the importance of preventing overtreatment and avoiding unnecessary prolonged follow-up and highlight the value of appropriate genetic testing and counseling. Finally, we demonstrate the critical role of international data exchange in establishing evidence-based recommendations.

Journal of Human ImmunityVol. 2(2)
University Medical Center Groningen (NL), Radboud University Nijmegen (NL), Utrecht University (NL), Leiden University Medical Center (NL), Maastricht University Medical Centre (NL), Erasmus MC (NL), Radboud University Medical Center (NL), University Medical Center Utrecht (NL), Maastricht University (NL), Emma Kinderziekenhuis (NL), National Institute for Public Health and the Environment (NL), National Institute of Public Health (GW), Amalia Kinderziekenhuis (NL), Willem-Alexander Kinderziekenhuis (NL), IJsselland Ziekenhuis (NL), Erasmus MC - Sophia Children’s Hospital (NL), Amsterdam University Medical Centers (NL), Wilhelmina Children's Hospital (NL), University of Amsterdam (NL)
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Openalex Percentile: Top 64%
Immunodeficiency and Autoimmune Disorders
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