Associated Papers
WHIM syndrome: from mechanism to targeted therapy - advances shaping clinical care.
Miller RZ et al.
Current Opinion in Allergy and Clinical Immunology, 2026
Clinicopathologic Features and the Spectrum of Myelokathexis in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Syndrome.
Li J et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025
Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations.
Yilmaz M et al.
Frontiers in Immunology, 2025
A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm.
Zmajkovicova K et al.
Blood Advances, 2024
The complex nature of CXCR4 mutations in WHIM syndrome.
Rodríguez-Frade JM et al.
Frontiers in Immunology, 2024
Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors.
Jones ML et al.
Thrombosis and Haemostasis, 2015
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