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Future Perspectives of Newborn Screening for Inborn Errors of Immunity

Maartje Blom1, Robbert G M Bredius2, Mirjam van der Burg1

  • 1Laboratory for Pediatric Immunology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.

International Journal of Neonatal Screening
|November 29, 2021
PubMed

Insights

Newborn screening (NBS) programs are expanding to include more inborn errors of immunity (IEI) beyond severe combined immunodeficiency (SCID). New technologies show promise for early detection of various IEI, but require careful evaluation before widespread adoption.

Area of Science:

  • Immunology
  • Genetics
  • Public Health

Background:

  • Newborn screening (NBS) programs have expanded, notably with the T-cell receptor excision circle (TREC) assay for severe combined immunodeficiency (SCID).
  • SCID was the first inborn error of immunity (IEI) included in population-based screening, utilizing the first high-throughput DNA-based test in NBS.

Purpose of the Study:

  • To explore the potential of new technologies for early detection of various IEI in newborns.
  • To identify other IEI that could benefit from early diagnosis and intervention through NBS.

Main Methods:

  • Review of technological advancements including KREC analysis, epigenetic immune cell counting, protein profiling, and genomic techniques (NGS, WGS).
  • Assessment of the feasibility of integrating these advanced tests into existing NBS programs.

Main Results:

  • Current NBS primarily screens for SCID using the TREC assay.
  • Emerging technologies like KREC analysis, epigenetic assays, protein profiling, and next-generation sequencing (NGS) offer potential for broader IEI screening.
  • Early detection of various IEI can prevent severe infections, immune dysregulation, and autoimmunity.

Conclusions:

  • Advances in molecular and genomic technologies present opportunities to expand NBS for a wider range of IEI.
  • Further examination of technical, ethical, social, legal, logistical, and cost implications is crucial before incorporating new IEI into NBS programs.

Keywords:
KRECTRECepigenetic immune cell countinginborn errors of immunitynewborn screeningnext-generation sequencingsevere combined immunodeficiency

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