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Sophia Martinez

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Open access Aug 2026

The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome.

OBJECTIVE WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome) is an ultra-rare primary immunodeficiency disease caused by autosomal dominant hyperfunctional mutations in the chemokine receptor CXCR4. Otolaryngologists are frequently consulted to evaluate WHIM patients because of recurre...

C. Zalewski, H. J. Kim, Carmen C. Brewer et al. · 0 citations

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