Molecule
CXCR4
Chemokine receptor driving bone marrow homing
- Expression change
- WHIM-like mutations in ~30-40%
- Evidence level
- established
Role in pathogenesis
CXCR4 is a chemokine receptor for CXCL12 (SDF-1). WHIM-like mutations (most commonly S338X) cause sustained receptor signaling and enhanced bone marrow homing. These mutations are associated with higher IgM, more hyperviscosity, and reduced response to BTK inhibitors.