WHIM and Bone

WHIM syndrome is a rare inherited disease caused by faults in the protein CXCR4. These faults increase CXCR4 activity and consequently, cause white blood cells to become trapped in the bone marrow. This produces a plethora of symptoms throughout the body. Researchers now hone in on bone symptoms in WHIM patients and WHIM mice. Bone density scanning revealed a quarter of WHIM patients had reduced bone density. In mice, microCT bone imaging (pictured) revealed WHIM mice with one (middle) or two copies (right) of the faulty CXCR4 gene had bone defects, unlike normal mice (left). WHIM mice had fewer cells that develop into bone cells and more bone-degrading cells. Blocking CXCR4 activity in these mice restored the loss of bone cells. This highlights the vital role of CXCR4 signalling in the production of bone cells and maintaining the balance between bone formation and degradation.

Written by Lux Fatimathas

Lux Fatimathas

Writer

Having pursued science through a career in research, communications and publishing, she is currently a writer and editor for a healthcare marketing agency and also juggles freelance science writing.

• Image from work by Adrienne Anginot, Julie Nguyen and Zeina Abou Nader, and colleagues
• Université Paris Cité, Institut de Recherche Saint-Louis, Paris, France
• Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)
• Published in Nature Communications, April 2023