Gabriel Mbalaviele

My research is focused on the role of NOD-like receptor (NLR) family, pyrin-domain containing 3 (NLRP3) inflammasome in the skeleton.  The NLRP3 inflammasome is an intracellular protein complex responsible for the maturation of interleukin (IL)-1ß and IL-18.  Autosomal dominant gain-of-function mutations of NLRP3 cause cryopyrin-associated periodic syndromes of which neonatal-onset multisystem inflammatory disease (NOMID) is the more severe phenotype.  NOMID is characterized by IL-1ß and IL-18-driven systemic inflammation associated with skeletal manifestations, including deformities, leg length discrepancy, epiphyseal overgrowths/lesions, short stature, and low bone mass in 85% of NOMID patients.  Thus, activated NLRP3 inflammasome significantly impacts skeletal development and remodeling.