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Updated: Jun 12, 2026

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
Implementing routine testing for severe combined immunodeficiency within Wisconsin's newborn screening program
Mei Wang Baker1, Ronald H Laessig, Murray L Katcher
1Wisconsin State Laboratory of Hygiene, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA.
Insights
Wisconsin
Area of Science:
- Immunology
- Genetics
- Public Health
Background:
- Severe combined immunodeficiency (SCID) is a genetic disorder affecting T-cell development, leading to life-threatening infections in infants.
- Early diagnosis and bone marrow transplantation significantly improve outcomes for SCID patients.
Purpose of the Study:
- To describe the implementation of SCID screening in Wisconsin's newborn screening (NBS) program.
- To detail the processes for adding SCID testing to NBS and establishing follow-up protocols.
Main Methods:
- Utilized a realtime quantitative polymerase chain reaction (PCR) assay to measure T-cell receptor excision circles (TRECs).
- TRECs serve as biomarkers for normal T-cell maturation; low levels indicate T-cell lymphopenia consistent with SCID.
Main Results:
- Wisconsin's NBS program became the first globally to routinely screen all newborns for SCID starting January 1, 2008.
- The study details the successful integration of SCID screening into existing NBS workflows.
Conclusions:
- The Wisconsin SCID newborn screening program demonstrates a viable model for other states.
- Implementing SCID screening via TREC measurement enhances early detection and improves infant health outcomes.
Abstract:
Severe combined immunodeficiency (SCID) is the result of genetic defects that impair normal T-cell development. SCID babies typically appear normal at birth, but acquire multiple life-threatening infections within a few months. Early diagnosis and treatment with a bone-marrow transplant markedly improves long-term outcomes. On January 1, 2008, the newborn screening (NBS) program in Wisconsin became the first in the world to routinely test all newborns for SCID. A realtime quantitative polymerase chain reaction assay measures T-cell receptor excision circles (TRECs), which are formed during the maturation of normal T-cells. A lack or very low number of TRECs is consistent with T-cell lymphopenia. The development and validation of the TREC assay and the results of the first year of screening have been published. This article describes the process used to add SCID to the NBS panel, the establishment of follow-up capacity, and the integration of SCID screening into routine NBS workflows. The development of this expanded NBS program is described so that other states might benefit from the processes used in Wisconsin.
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