Publications by authors named "Ivana Wiest"
Article Synopsis
- Warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome is primarily linked to mutations in the CXCR4 gene, leading to immune system issues.
- Research evaluated how different CXCR4 mutations affect physical symptoms and the potential of a drug called mavorixafor to mitigate these effects.
- Results indicated that all tested CXCR4 variants had impaired functioning, with a clear connection between the severity of immune symptoms and specific CXCR4 internalization issues, suggesting potential new biomarkers for the syndrome.*
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct CXCR4 genetic variants within our cohort, 11 were novel pathogenic variants affecting 15 individuals (23%).
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