Autoinflammatory disorders in Children

Autoinflammatory diseases arise when the control of innate inflammatory responses fails. These disorders are characterized by seemingly unprovoked or disproportionate inflammation, insufficiently explained by infection or autoimmunity. Clinically inflammation manifests itself as fever, malaise, and localized organ or tissue involvement such as dermatitis, mucositis, serositis, arthritis, myositis, or aseptic meningitis. For reasons that remain unclear disease activity tends to be intermittent with flares of febrile illness alternating with remissions. This is known as periodic fever, the prototype of which is the hereditary familial Mediterranean fever.

Over recent decades many more monogenetic autoinflammatory disorders have been identified. Most affect interleukin (IL)-1 regulation either directly or indirectly and hence can be treated by IL-1 blockade. Other autoinflammatory disorders, however, affect other pathways such as type 1 interferon signaling. In this chapter, we will discuss the main monogenetic autoinflammatory syndromes, their molecular background, clinical manifestations, and treatment.