Article
TREC Screening for WHIM Syndrome.
Journal of clinical immunology - 1 Apr 2021
Evans Martin Oman, Petersen Maureen M, Khojah Amer, Jyonouchi Soma C, Edwardson George S, Khan Yasmin West, Connelly James Albert, Morris David, Majumdar Shamik, McDermott David H, Walter Jolan E, Murphy Philip M
Abstract excerpt
PURPOSE: T cell receptor excision circle (TREC) quantification is a recent addition to newborn screening (NBS) programs and is intended to identify infants with severe combined immunodeficiencies (SCID). However, other primary immunodeficiency diseases (PID) have also been identified as the result of TREC screening. We recently reported a newborn with a low TREC level on day 1 of life who was diagnosed with WHIM...
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