Laboratory Technology for Population-based Screening for SCID in Neonates: The Winner Is T-cell Receptor Excision Circles (TRECs)

摘要

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 prior to 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 the DNA biomarker of normal T cell development, T cell receptor excision circles (TRECs), has proven successful. TREC numbers can be measured in DNA isolated from the dried blood spots 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.