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TY - JOUR AU - Mallott, Jacob AU - Kwan, Antonia AU - Church, Joseph AU - Gonzalez-Espinosa, Diana AU - Lorey, Fred AU - Tang, Ling Fung AU - Sunderam, Uma AU - Rana, Sadhna AU - Srinivasan, Rajgopal AU - Brenner, Steven E. AU - Puck, Jennifer PY - 2013 DA - 2013/04/01 TI - Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia JO - Journal of Clinical Immunology SP - 540 EP - 549 VL - 33 IS - 3 AB - 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 identifies infants with T lymphocytopenia who appear healthy and in whom a SCID diagnosis cannot be confirmed. Deep sequencing was employed to find causes of T lymphocytopenia in such infants. SN - 1573-2592 UR - https://doi.org/10.1007/s10875-012-9846-1 DO - 10.1007/s10875-012-9846-1 ID - Mallott2013 ER -