Juvenile/ pediatric rheumatology & autoinflamatory diseases Exam with Questions and Answers

It covers key domains which include; Juvenile Idiopathic Arthritis (JIA), Systemic Autoimmune Rheumatic Diseases (SARDs), Autoinflammatory Diseases and Other Inflammatory and Musculoskeletal Conditions. An infant presents with chronic aseptic meningitis, severe developmental delay, bony overgrowth, and persistent urticarial rash from birth. Which pathophysiologic mechanism is most central to this disease? a. TNF-alpha overproduction due to macrophage activation b. Autoantibody-mediated complement activation c. NLRP3 inflammasome-driven IL-1β excess d. T-cell receptor gene rearrangement defect Correct Answer: c Rationale: Neonatal-onset multisystem inflammatory disease (NOMID/CINCA), the most severe CAPS phenotype, is driven by gain-of-function mutations in NLRP3 leading to constitutive activation of the inflammasome and excessive IL-1β production. This causes systemic inflammation, CNS involvement, and skeletal abnormalities.