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<p>Severe combined immunodeficiencies (SCID) are rare but life-threatening congenital disorders that if left untreated, lead to severe often fatal infections in early infancy. Affected neonates are usually clinically asymptomatic at birth and early detection is therefore crucial. This review article summarizes the principles of T‑cell receptor excision circles-based newborn screening (TREC-NBS) for SCID, which has been implemented nationwide in Germany since 2019 as a&#xa0;component of the extended neonatal screening. As of September 2024, around 4.5&#xa0;million neonates had been tested by TREC quantification and 170 children with a&#xa0;primary severe T‑cell lymphopenia could be identified. The article outlines the scientific background of the screening approach, the screening algorithm applied in Germany and the recommended diagnostic and clinical management following abnormal screening results. In addition, experiences from several years of screening practice are reviewed and their relevance for the care of affected children is discussed.</p>

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Neugeborenenscreening auf schwere kombinierte Immundefekte und schwere angeborene T-Zell-Lymphopenien

  • 期刊论文

  • 发表日期：

    2026年5月8日

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  • Sujal Ghosh,
  • Michael H. Albert,
  • Shahrzad Bakhtiar,
  • Fabian Hauck,
  • Manfred Hönig,
  • Catharina Schütz,
  • Ansgar Schulz,
  • Carsten Speckmann

摘要

Severe combined immunodeficiencies (SCID) are rare but life-threatening congenital disorders that if left untreated, lead to severe often fatal infections in early infancy. Affected neonates are usually clinically asymptomatic at birth and early detection is therefore crucial. This review article summarizes the principles of T‑cell receptor excision circles-based newborn screening (TREC-NBS) for SCID, which has been implemented nationwide in Germany since 2019 as a component of the extended neonatal screening. As of September 2024, around 4.5 million neonates had been tested by TREC quantification and 170 children with a primary severe T‑cell lymphopenia could be identified. The article outlines the scientific background of the screening approach, the screening algorithm applied in Germany and the recommended diagnostic and clinical management following abnormal screening results. In addition, experiences from several years of screening practice are reviewed and their relevance for the care of affected children is discussed.