Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is
1Division of Allergy, Immunology and Bone Marrow Transplantation, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143-0519, USA. puckj@peds.ucsf.edu
Insights
Newborn screening for severe combined immunodeficiency (SCID) is crucial. Testing for T-cell receptor excision circles (TRECs) in dried blood spots effectively identifies infants needing early intervention for this life-threatening condition.
Area of Science:
- Immunology
- Genetics
- Public Health
Background:
- Severe combined immunodeficiency (SCID) is a fatal primary immunodeficiency disease in infants.
- Early diagnosis and treatment are essential for survival, but clinical signs are often absent at birth.
Purpose of the Study:
- To evaluate T-cell receptor excision circles (TRECs) as a biomarker for newborn screening of SCID.
- To assess the feasibility of integrating TREC testing into existing newborn screening programs.
Main Methods:
- DNA analysis of dried blood spots from newborns.
- Quantification of T-cell receptor excision circles (TRECs) as a measure of T-cell development.
Main Results:
- TREC levels accurately reflect T-cell development and can identify infants with SCID.
- TREC testing can be successfully integrated into routine newborn screening protocols.
Conclusions:
- Newborn screening using TREC analysis is a viable strategy for early detection of SCID.
- This screening approach enables prompt intervention, improving outcomes for affected infants.
Abstract:
The most profound primary immunodeficiency disease, severe combined immunodeficiency (SCID), is fatal in infancy unless affected infants are provided with an adaptive immune system through allogeneic hematopoietic cell transplantation, enzyme replacement, or gene therapy. However, most infants with SCID lack a family history or any clinical clues before the onset of infections, making this serious but treatable disease a candidate for population-based newborn screening. Of several approaches considered for SCID screening, testing for T-cell receptor excision circles (TRECs), a DNA biomarker of normal T-cell development, has proved successful. TREC numbers can be measured in DNA isolated from the dried bloodspots already routinely collected for newborn screening. Infants with low or absent TRECs can thus be identified and referred for confirmatory testing and prompt intervention. TREC testing of newborns is now being performed in several states, indicating that this addition to the newborn screening panel can be successfully integrated into state public health programs.
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