Autoinflammatory diseases (AIDs) are a family of rare medical entities, characterized by sterile systemic inflammatory episodes caused by exaggerated activation of the innate immune system, for which the pathogenic role of autoantibodies, B or T cells is less relevant. During the past 20 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. Proteins encoded by these genes are involved in the regulatory pathways of inflammation and they are mostly expressed in cells of the innate immune system. Since symptoms can overlap within this rapidly expanding disease category, accurate genetic diagnosis is extremely important to start early targeted treatment and to prevent clinically significant or life-threatening complications. On the other hand, detection of more and more genetic variants makes interpretation of results more complicated, and often a genetic diagnosis is not achieved. Thus, the clinical picture represents the starting point for establishing an effective therapy when genetic data are not sufficient or inconclusive. Biologic agents blocking cytokines action have proved to be dramatically effective in a lot of patients.
