A patient with WHIM syndrome presenting relatively low TREC, KREC, and housekeeping gene levels by newborn screening -a case report and the literature review
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WHIM syndrome is the inborn errors of immunity characterized by warts, hypogammaglobulinemia, infections, and myelokathexis, by the pathogenic variant in CXCR4. Patients with WHIM syndrome demonstrate neutropenia and lymphopenia due to the impaired migration o... ...
