Abstract
Newborn screening (NBS) for severe combined immunodeficiency (SCID) utilizing the T-cell receptor excision circle assay is a sensitive and specific method to detect T-cell lymphopenia in early infancy. Starting in 2008, several programs have implemented SCID NBS with successful detection of SCID-affected infants; currently over two thirds of U.S. infants receive SCID NBS. Population-based, unbiased screening has established an incidence of SCID to be 1 in 58,000 births, and has revealed a distribution of SCID genotypes different from prior reports from specific SCID treatment centers. Detecting SCID-affected infants in the newborn period allows for timely implementation of protective measures and optimal definitive treatment prior to the onset of life-threatening infections. Infants with non-SCID T-cell lymphopenia also detected by NBS may have one of several recognized syndromes in which lymphocyte development may be impaired, as well as other conditions associated with secondary T-cell lymphopenia.
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