Ontology highlight
ABSTRACT:
SUBMITTER: Bonar SL
PROVIDER: S-EPMC3338787 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Bonar Sheri L SL Brydges Susannah D SD Mueller James L JL McGeough Matthew D MD Pena Carla C Chen Debbie D Grimston Susan K SK Hickman-Brecks Cynthia L CL Ravindran Soumya S McAlinden Audrey A Novack Deborah V DV Kastner Daniel L DL Civitelli Roberto R Hoffman Hal M HM Mbalaviele Gabriel G
PloS one 20120427 4
The NLRP3 inflammasome complex is responsible for maturation of the pro-inflammatory cytokine, IL-1β. Mutations in NLRP3 are responsible for the cryopyrinopathies, a spectrum of conditions including neonatal-onset multisystem inflammatory disease (NOMID). While excessive production of IL-1β and systemic inflammation are common to all cryopyrinopathy disorders, skeletal abnormalities, prominently in the knees, and low bone mass are unique features of patients with NOMID. To gain insights into the ...[more]