Pediatric autoinflammatory bone disorders-a mini review with special focus on pathogenesis and inborn errors of immunity

Autoinflammatory bone disorders are a group of diseases characterized by sterile osteomyelitis. This includes chronic nonbacterial osteomyelitis and the monogenic forms, Majeed syndrome and deficiency of the interleukin-1 receptor antagonist. These disorders result from innate immune system dysregulation and cytokine imbalance that triggers inflammasome activation causing downstream osteoclastogenesis and excessive bone remodeling. In this review, we will summarize the immunopathogenesis of pediatric autoinflammatory bone diseases with a special focus on the genetics and inborn errors of immunity, while briefly touching on the clinical manifestations and management of each disease as well as areas for future research.

Automated summary

Autoinflammatory bone disorders are characterized by sterile osteomyelitis. The diseases include chronic nonbacterial osteomyelitis, Majeed syndrome, and deficiency of the interleukin-1 receptor antagonist. These disorders result from dysregulation of the innate immune system and cytokine imbalance, leading to inflammasome activation and excessive bone remodeling. This review provides an overview of the immunopathogenesis of pediatric autoinflammatory bone diseases, focusing on genetics and inborn errors of immunity, and briefly discussing clinical manifestations, management, and areas for future research.