Article
WHIM Syndrome-linked CXCR4 mutations drive osteoporosis.
Nature communications - 12 Apr 2023
Anginot Adrienne, Nguyen Julie, Abou Nader Zeina, Rondeau Vincent, Bonaud Amélie, Kalogeraki Maria, Boutin Antoine, Lemos Julia P, Bisio Valeria, Koenen Joyce, Hanna Doumit Sakr Lea, Picart Amandine, Coudert Amélie, Provot Sylvain, Dulphy Nicolas, Aurrand-Lions Michel, Mancini Stéphane J C, Lazennec Gwendal, McDermott David H, Guidez Fabien, Blin-Wakkach Claudine, Murphy Philip M, Cohen-Solal Martine, Espéli Marion, Rouleau Matthieu, Balabanian Karl
Abstract excerpt
WHIM Syndrome is a rare immunodeficiency caused by gain-of-function CXCR4 mutations. Here we report a decrease in bone mineral density in 25% of WHIM patients and bone defects leading to osteoporosis in a WHIM mouse model. Imbalanced bone tissue is observed in mutant mice combining reduced osteoprogenitor cells and increased osteoclast numbers. Mechanistically, impaired CXCR4 desensitization disrupts cell cycle...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.