Amandine Charras, Sigrun R Hofmann, Allison Cox, Felix Schulze, Susanne Russ, Sarah Northey, Xuan Liu, Yongxiang Fang, Sam Haldenby, Hella Hartmann, Alexander G Bassuk, Ana Carvalho, Francesca Sposito, Lev Grinstein, Angela Rösen-Wolff, Almut Meyer-Bahlburg, Michael W Beresford, Elke Lainka, Dirk Föll, Helmut Wittkowski, Hermann J Girschick, Henner Morbach, Steffen Uebe, Ulrike Hüffmeier, Polly J Ferguson, Christian M Hedrich
Chronic nonbacterial osteomyelitis (CNO), an autoinflammatory bone disease primarily affecting children, can cause pain, hyperostosis and fractures, affecting quality-of-life and psychomotor development. This study investigated CNO-associated variants in P2RX7, encoding for the ATP-dependent trans-membrane K+ channel P2X7, and their effects on NLRP3 inflammasome assembly. Whole exome sequencing in two related transgenerational CNO patients, and target sequencing of P2RX7 in a large CNO cohort (N = 190) were conducted...
February 22, 2024: Journal of Autoimmunity