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Updated: Jul 16, 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
Newborn screening for severe combined immunodeficiency and inborn errors of immunity
Atar Lev1, Raz Somech, Ido Somekh
1Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Affiliated to the Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.
Insights
Newborn screening (NBS) for Severe Combined Immune Deficiency (SCID) enables early diagnosis and treatment, improving outcomes. Expanding NBS to other inborn errors of immunity (IEI) is the next critical step for infant health.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Severe combined immune deficiency (SCID) is a severe genetic disorder impacting the immune system, often fatal without early intervention.
- Newborn screening (NBS) programs are vital for the early detection and management of SCID in infants.
Purpose of the Study:
- To review the role of NBS in SCID diagnosis and discuss its evolution.
- To highlight the potential of expanding NBS to include other inborn errors of immunity (IEI).
Main Methods:
- Review of the historical implementation of SCID NBS using T-cell receptor excision circles (TRECs) from Guthrie cards.
- Discussion of advancements in diagnostic technologies and treatments for IEIs.
Main Results:
- SCID NBS has revolutionized early detection, enabling timely treatments like hematopoietic stem cell transplantation.
- This approach has also improved understanding of SCID's global epidemiology.
Conclusions:
- NBS for SCID has been a pioneering success in identifying and treating a devastating genetic disease.
- The future involves expanding NBS to encompass a wider range of IEIs for broader early diagnosis and improved infant survival rates.
Purpose Of Review:
Severe combined immune deficiency (SCID) is the most devastating genetic disease of the immune system with an unfavorable outcome unless diagnosed early in life. Newborn screening (NBS) programs play a crucial role in facilitating early diagnoses and timely interventions for affected infants.
Recent Findings:
SCID marked the pioneering inborn error of immunity (IEI) to undergo NBS, a milestone achieved 15 years ago through the enumeration of T-cell receptor excision circles (TRECs) extracted from Guthrie cards. This breakthrough has revolutionized our approach to SCID, enabling not only presymptomatic identification and prompt treatments (including hematopoietic stem cell transplantation), but also enhancing our comprehension of the global epidemiology of SCID.
Summary:
NBS is continuing to evolve with the advent of novel diagnostic technologies and treatments. Following the successful implementation of SCID-NBS programs, a call for the early identification of additional IEIs is the next step, encompassing a broader spectrum of IEIs, facilitating early diagnoses, and preventing morbidity and mortality.
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