Texas newborn screening program research study to detect severe combined immunodeficiency

Severe Combined Immunodeficiency Disease (SCID) is a primary immunodeficiency disorder characterized by a lack of T-cell proliferation. It is important to screen newborns for SCID because without treatment, the disease is 100% fatal. If SCID is diagnosed early, gene therapy as well as stem-cell transplantation can restore T-cell function, saving the newborn’s life. The purpose of this project was to demonstrate the validity of a proprietary assay for T-cell Receptor Excision Circles (TRECs) for diagnosis for SCID in Texas newborns developed by the University of Massachusetts Medical School. 848 newborns were screened at approximately two days and again at two weeks old, and their TREC and RNAse P concentrations were quantified. The results from the Texas screens were compared with those from the University of Massachusetts Medical School, which also screened the specimens. The results of the project will indicate whether or not the Newborn DNA Analysis Group at TDSHS should include SCID in its newborn screening panel.