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GENATLAS PHENOTYPE
last update : 01-04-2011
Symbol WHIM
Location 2q22.1
Name WHIM syndrome, warts, hypogammaglobulinemia, infections, and myelokatexis syndrome
Other name(s) Warts, hypogammaglobulinemia, infections, and myelokathexis
Corresponding gene CXCR4
Main clinical features
  • combination of chronic papillomavirus and bacterial sinopulmonary infections, low immunoglobulin levels, and peripheral neutropenia with retention of bone marrow neutrophils
    • Genetic determination
    Function/system disorder hematology
    Type disease
    Gene product
    Name chemokine (C-X-C motif), receptor 4
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein in the cytoplasmic tail domain
    Remark(s) ; both kinases GRK3 and GRK6 bind to WT CXCR4 and are critical to its trafficking to the lysosomes, GRK6 fails to associate with the WHIM-mutant receptor whereas GRK3 associates normally (PMID: 19956569))