CXCR4 signaling in health and disease

Immunol Lett. 2016 Sep;177:6-15. doi: 10.1016/j.imlet.2016.06.006. Epub 2016 Jun 27.


Chemokines and chemokine receptors regulate multiple processes such morphogenesis, angiogenesis and immune responses. Among the chemokine receptors, CXCR4 stands out for its pleiotropic roles as well as for its involvement in several pathological conditions, including immune diseases, viral infections and cancer. For these reasons, CXCR4 represents a crucial target in drug development. In this review, we discuss of CXCR4 receptor properties and signaling in health and diseases, focusing on the WHIM syndrome, an inherited immunodeficiency caused by mutations of the CXCR4 gene.

Keywords: CXCL12; CXCR4; Chemokine receptors; Immunity; Signaling pathway; WHIM syndrome.

Publication types

  • Review

MeSH terms

  • Animals
  • Chemokine CXCL12 / metabolism*
  • Humans
  • Immunity
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology*
  • Morphogenesis
  • Mutation / genetics
  • Neovascularization, Physiologic
  • Primary Immunodeficiency Diseases
  • Protein Conformation
  • Receptors, CXCR4 / genetics
  • Receptors, CXCR4 / metabolism*
  • Signal Transduction
  • Transcriptome
  • Warts / genetics
  • Warts / immunology*


  • Chemokine CXCL12
  • Receptors, CXCR4

Supplementary concepts

  • WHIM syndrome