The autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high-titer autoantibodies or antigen-specific T cells. The concept was proposed ten years ago with the identification of the genes underlying hereditary periodic fever syndromes. NLRP3 inflammasome activation and IL-1β secretion have recently emerged as a central mechanism in the pathogenesis of disease. Here we describe four genetically defined syndromes like cryopyrin-associated periodic syndromes (CAPS, cryopyrinopathies), mevalonate kinase deficiency (MKD) or hyper-IgD and periodic fever syndrome (HIDS), pyogenic aseptic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome), and deficiency of interleukin-1-receptor antagonist (DIRA) along with the pitfall for understanding the pathphysiology.
2011 by The Japanese Society of Inflammation and Regeneration