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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program.

Lea Graafen1, Carsten Speckmann2,3, Shahrzad Bakhtiar4

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TREC-NBS screening identifies syndromic patients with inborn errors of immunity (IEI). The German healthcare system provides early prophylactic care and timely definitive treatments, improving survival for these complex cases.

Keywords:
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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • TREC-NBS screening identifies patients with inborn errors of immunity (IEI) and syndromic features.
  • Management of these syndromic IEI patients remains challenging.
  • Systematic analysis is needed to understand their immunological management.

Purpose of the Study:

  • To analyze phenotype, treatment, and outcomes of syndromic patients detected by TREC-NBS in Germany.
  • To evaluate the effectiveness of the German healthcare system in managing these patients.
  • To identify key factors for improving care for syndromic IEI.

Main Methods:

  • Systematic analysis of syndromic patients identified by TREC-NBS (August 2019 - April 2024).
  • Data collection via national registries and treating centers.
  • Phenotype, treatment, and outcome assessment.

Main Results:

  • 77 syndromic patients identified; 22 gene defects found in 93.5%.
  • Primary thymic deficiency (64%) common, often linked to 22q11.2 deletion syndrome.
  • Prompt definitive treatments (thymus/HSCT) and prophylactic care were provided; limited T-cell recovery; 89% overall survival.

Conclusions:

  • This is the first comprehensive study of syndromic IEI patients identified via TREC-NBS.
  • The German healthcare system facilitates early care and timely access to definitive therapies.
  • Interdisciplinary collaboration is crucial for developing evidence-based management guidelines.