Proper desensitization of CXCR4 is required for lymphocyte development and peripheral compartmentalization in mice

Blood. 2012 Jun 14;119(24):5722-30. doi: 10.1182/blood-2012-01-403378. Epub 2012 Mar 20.

Abstract

Desensitization controls G protein-dependent signaling of chemokine receptors. We investigate the physiologic implication of this process for CXCR4 in a mouse model harboring a heterozygous mutation of the Cxcr4 gene, which engenders a desensitization-resistant receptor. Such anomaly is linked to the warts, hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome, a human rare combined immunodeficiency. Cxcr4(+/mutant(1013)) mice display leukocytes with enhanced responses to Cxcl12 and exhibit leukopenia as reported in patients. Treatment with CXCL12/CXCR4 antagonists transiently reverses blood anomalies, further demonstrating the causal role of the mutant receptor in the leukopenia. Strikingly, neutropenia occurs in a context of normal bone marrow architecture and granulocyte lineage maturation, indicating a minor role for Cxcr4-dependent signaling in those processes. In contrast, Cxcr4(+/1013) mice show defective thymopoiesis and B-cell development, accounting for circulating lymphopenia. Concomitantly, mature T and B cells are abnormally compartmentalized in the periphery, with a reduction of primary follicles in the spleen and their absence in lymph nodes mirrored by an unfurling of the T-cell zone. These mice provide a model to decipher the role of CXCR4 desensitization in the homeostasis of B and T cells and to investigate which manifestations of patients with WHIM syndrome may be overcome by dampening the gain of CXCR4 function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • B-Lymphocytes / drug effects
  • B-Lymphocytes / pathology
  • Benzylamines
  • Bone Marrow / pathology
  • Cell Compartmentation / immunology*
  • Chemokine CXCL12 / pharmacology
  • Chemotaxis / drug effects
  • Chronic Disease
  • Cyclams
  • Desensitization, Immunologic*
  • Heterocyclic Compounds / pharmacology
  • Homeostasis / drug effects
  • Humans
  • Lymph Nodes / drug effects
  • Lymph Nodes / pathology
  • Lymphocyte Count
  • Lymphocytes / drug effects
  • Lymphocytes / immunology*
  • Mice
  • Mutation / genetics
  • Neutropenia / blood
  • Neutropenia / pathology
  • Receptors, CXCR4 / immunology*
  • Signal Transduction / drug effects
  • T-Lymphocytes / drug effects
  • T-Lymphocytes / pathology

Substances

  • Benzylamines
  • Chemokine CXCL12
  • Cyclams
  • Heterocyclic Compounds
  • Receptors, CXCR4
  • plerixafor