Open AccessTREC Screening for WHIM Syndrome
Author(s) -
Martin Oman Evans,
Maureen M. Petersen,
Amer Khojah,
Soma Jyonouchi,
George S. Edwardson,
Yasmin Khan,
James Connelly,
David Morris,
Shamik Majumdar,
David H. McDermott,
Jolán E. Walter,
Philip M. Murphy
Publication year - 2021
Publication title -
journal of clinical immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.739
H-Index - 96
eISSN - 1573-2592
pISSN - 0271-9142
DOI - 10.1007/s10875-020-00921-4
Subject(s) - hypogammaglobulinemia , newborn screening , primary immunodeficiency , medicine , pediatrics , severe combined immunodeficiency , immunodeficiency , immunology , disease , biology , immune system , biochemistry , antibody , gene
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 (warts, hypogammaglobulinemia, infections, myelokathexis) syndrome, a non-SCID primary immunodeficiency caused by mutations in the chemokine receptor CXCR4.