Article
Newborn screening for SCID identifies patients with ataxia telangiectasia.
Journal of clinical immunology - 1 Apr 2013
Mallott Jacob, Kwan Antonia, Church Joseph, Gonzalez-Espinosa Diana, Lorey Fred, Tang Ling Fung, Sunderam Uma, Rana Sadhna, Srinivasan Rajgopal, Brenner Steven E, Puck Jennifer
Abstract excerpt
PURPOSE: Severe combined immunodeficiency (SCID) is characterized by failure of T lymphocyte development and absent or very low T cell receptor excision circles (TRECs), DNA byproducts of T cell maturation. Newborn screening for TRECs to identify SCID is now performed in several states using PCR of DNA from universally collected dried blood spots (DBS). In addition to infants with typical SCID, TREC screening...
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