WHIM Syndrome-linked CXCR4 mutations drive osteoporosis

WHIM Syndrome-linked CXCR4 mutations drive osteoporosis

Abstract 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...

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Bibliographic Details
Main Authors: Adrienne Anginot, Julie Nguyen, Zeina Abou Nader, Vincent Rondeau, Amélie Bonaud, Maria Kalogeraki, Antoine Boutin, Julia P. Lemos, Valeria Bisio, Joyce Koenen, Lea Hanna Doumit Sakr, Amandine Picart, Amélie Coudert, Sylvain Provot, Nicolas Dulphy, Michel Aurrand-Lions, Stéphane J. C. Mancini, Gwendal Lazennec, David H. McDermott, Fabien Guidez, Claudine Blin-Wakkach, Philip M. Murphy, Martine Cohen-Solal, Marion Espéli, Matthieu Rouleau, Karl Balabanian
Format: Article
Language:English
Published: Nature Portfolio 2023-04-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-37791-4

Internet

https://doi.org/10.1038/s41467-023-37791-4

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