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<p>TREC-NBS identifies patients with inborn errors of immunity (IEI) and syndromic features, but uncertainty remains regarding their immunological management. To address this, syndromic patients detected by TREC-NBS in Germany between August 2019 and April 2024 were systematically analyzed, including phenotype, treatment, and outcomes. National registries were screened, and data were completed by the treating centres. A total of 77 syndromic patients were identified, with 22 different gene defects found in 72 individuals (93.5%). Primary thymic deficiency was present in 64% (49/77), most commonly due to 22q11.2 deletion syndrome (62%). Common clinical features included congenital heart disease (57%), facial/skeletal abnormalities (53%), and neurological symptoms (36%). Definitive treatments were provided promptly in eligible patients, including 6 thymus transplants and 6 hematopoietic stem cell transplants (HSCT). A watch-and-wait approach was applied to the remaining patients, with 34% (22/65) receiving prophylactic treatment. Recovery of CD3 + T-cell counts was limited to a minority. Overall survival was 89%, with a median follow-up of 32 months (range 0.5–60). To conclude, this is the first comprehensive study of syndromic IEI patients identified through TREC-NBS. The findings show that the German healthcare system enables both early prophylactic care and timely access to definitive therapies. Moving forward, interdisciplinary collaboration will be key to developing evidence-based management guidelines for this challenging patient group.</p>

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Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年3月14日

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  • Lea Graafen,
  • Carsten Speckmann,
  • Shahrzad Bakhtiar,
  • Horst v. Bernuth,
  • Kai Lehmberg,
  • Peter Bader,
  • Ulrich Baumann,
  • Rita Beier,
  • Stephan Borte,
  • Inken Brockow,
  • E. Graham Davies,
  • Maximilian Hartmann,
  • Ursula Holzer,
  • Christian Klemann,
  • Alexandra Y. Kreins,
  • Renate Krüger,
  • Udo Kontny,
  • Hans-Jürgen Laws,
  • Andrea Meinhardt,
  • Henner Morbach,
  • Nora Naumann-Bartsch,
  • Tobias Rothoeft,
  • Dominik T. Schneider,
  • Andre Willasch,
  • Austen Worth,
  • Markus G. Seidel,
  • Michael H. Albert,
  • Stephan Ehl,
  • Fabian Hauck,
  • Manfred Hönig,
  • Ansgar Schulz,
  • Catharina Schuetz,
  • Sujal Ghosh

摘要

TREC-NBS identifies patients with inborn errors of immunity (IEI) and syndromic features, but uncertainty remains regarding their immunological management. To address this, syndromic patients detected by TREC-NBS in Germany between August 2019 and April 2024 were systematically analyzed, including phenotype, treatment, and outcomes. National registries were screened, and data were completed by the treating centres. A total of 77 syndromic patients were identified, with 22 different gene defects found in 72 individuals (93.5%). Primary thymic deficiency was present in 64% (49/77), most commonly due to 22q11.2 deletion syndrome (62%). Common clinical features included congenital heart disease (57%), facial/skeletal abnormalities (53%), and neurological symptoms (36%). Definitive treatments were provided promptly in eligible patients, including 6 thymus transplants and 6 hematopoietic stem cell transplants (HSCT). A watch-and-wait approach was applied to the remaining patients, with 34% (22/65) receiving prophylactic treatment. Recovery of CD3 + T-cell counts was limited to a minority. Overall survival was 89%, with a median follow-up of 32 months (range 0.5–60). To conclude, this is the first comprehensive study of syndromic IEI patients identified through TREC-NBS. The findings show that the German healthcare system enables both early prophylactic care and timely access to definitive therapies. Moving forward, interdisciplinary collaboration will be key to developing evidence-based management guidelines for this challenging patient group.