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Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR
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Managing non-SCID T cell lymphopenia after TREC-based newborn screening.

Annelotte J Duintjer1, Robbert G M Bredius2, J Merlijn van den Berg3

  • 1Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, Netherlands.

Journal of Human Immunity
|May 22, 2026
PubMed
Summary

Newborn screening for severe combined immunodeficiency (SCID) using TREC analysis identifies more than just SCID. This study highlights challenges in managing other T cell lymphopenias and emphasizes avoiding overtreatment.

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Area of Science:

  • Immunology
  • Genetics
  • Public Health

Background:

  • Newborn screening (NBS) for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TRECs) is widespread.
  • TREC-based NBS detects SCID and other causes of T cell lymphopenia, posing clinical management challenges.

Purpose of the Study:

  • To evaluate clinical follow-up data from 6.5 years of SCID NBS in the Netherlands.
  • To identify challenges and provide recommendations for managing infants with T cell lymphopenia detected via NBS.

Main Methods:

  • Analysis of clinical follow-up data from a nationwide SCID NBS program.
  • Systematic evaluation of patient outcomes and management strategies.

Main Results:

  • The study identified key challenges in managing secondary findings from TREC-based NBS.
  • Results emphasize the need to prevent overtreatment and unnecessary prolonged follow-up.
  • Appropriate genetic testing, counseling, and international data sharing are crucial.

Conclusions:

  • Effective management of T cell lymphopenias beyond SCID requires systematic evaluation and evidence-based recommendations.
  • Preventing overtreatment and optimizing follow-up duration are critical.
  • International collaboration is vital for establishing best practices in NBS follow-up.