TREC Screening for WHIM Syndrome | Zendy

Martin Oman Evans | Zendy; Maureen Petersen | Zendy; Amer Khojah | Zendy; Soma Jyonouchi | Zendy; George S. Edwardson | Zendy; Yasmin Khan | Zendy; James A. Connelly | Zendy; David Morris | Zendy; Shamik Majumdar | Zendy; David H. McDermott | Zendy; Jolán E. Walter | Zendy; Philip M. Murphy | Zendy

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TREC Screening for WHIM Syndrome

Author(s) -

Martin Oman Evans,

Maureen Petersen,

Amer Khojah,

Soma Jyonouchi,

George S. Edwardson,

Yasmin Khan,

James A. 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.

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