Efficient screening strategies for severe combined immunodeficiencies in newborns
Related Experiment Video
Updated: Jul 18, 2025
Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
Published on: December 6, 2014
Maartje Blom1, Robbert G M Bredius2, Miriam van der Burg1
1Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.
Insights
Newborn screening for Severe Combined Immunodeficiency (SCID), a severe inborn error of immunity, is crucial. Early detection through T-cell receptor excision circle (TREC) testing improves infant survival rates.
Area of Science:
- Immunology
- Genetics
- Public Health
Background:
- Severe Combined Immunodeficiency (SCID) is a life-threatening inborn error of immunity affecting cellular and humoral immunity.
- Affected infants typically die within the first year without curative treatment like stem cell or gene therapy.
- SCID's early asymptomatic nature and improved outcomes with early intervention make it a candidate for newborn screening (NBS).
Purpose of the Study:
- To review the implementation and optimization of SCID screening in newborn populations.
- To discuss the impact of T-cell receptor excision circle (TREC) detection in NBS programs.
- To highlight the importance of efficient, cost-effective screening strategies and international harmonization.
Main Methods:
- Population-based screening using T-cell receptor excision circle (TREC) detection.
- Algorithm adjustments and second-tier tests to optimize screening efficiency and reduce false positives.
- Review of international NBS programs for SCID.
Main Results:
- Many countries have successfully implemented SCID screening using TREC detection.
- Optimized screening strategies balance sensitivity and specificity, managing secondary findings effectively.
- Harmonization of screening terminology facilitates international knowledge sharing.
Conclusions:
- Newborn screening for SCID is an effective public health strategy.
- Advancements in testing, including next-generation sequencing, will expand NBS for other inborn errors of immunity.
- Continued development of screening modalities and treatments promises improved outcomes for infants with IEI.
Introduction:
Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity (IEI), affecting both cellular and humoral immunity. Without curative treatment such as hematopoietic stem cell transplantation or gene therapy, affected infants die within the first year of life. Due to the severity of the disease, asymptomatic status early in life, and improved survival in the absence of pretransplant infections, SCID was considered a suitable candidate for newborn screening (NBS).
Areas Covered:
Many countries have introduced SCID screening based on T-cell receptor excision circle (TREC) detection in their NBS programs. Screening an entire population is a radical departure from previous paradigms in the field of immunology. Efficient screening strategies are cost-efficient and balance high sensitivity while preventing high numbers of referrals. NBS for SCID is accompanied by (actionable) secondary findings, but many NBS programs have optimized their screening strategy by adjusting algorithms or including second-tier tests. Harmonization of screening terminology is of great importance for international shared learning.
Expert Opinion:
The expansion of NBS is driven by the development of new test modalities and treatment options. In the near future, other techniques such as next-generation sequencing will pave the way for NBS of other IEI. Exciting times await for population-based screening programs.
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