Approach and Management of Abnormal T-Cell Receptor Excision Circles on Newborn Screening

Abstract

Severe combined immunodeficiency (SCID) is a disease of adaptative immunity and the most severe form of primary immunodeficiency. Without early diagnosis and proper management, infants are at increased risk of severe recurrent infections and death. The addition of a T-cell receptor excision circle (TREC) assay to newborn screening (NBS) has made an enormous impact on early disease diagnosis and management, resulting in improved survival. In this review, we will discuss the diagnosis and management of SCID and the impact of the TREC assay addition to NBS.