Abstract
The concept of autoinflammatory diseases was gradually formulated at the end of the 20th century with the development of mainly genetic methods, which led to the revelation of the causing genes and pathways leading to inflammation. With more detailed knowledge on the eti-opathogenesis of autoinflammatory diseases, it has been found that the field is much wider and encompassed several defined groups of diseases associated with infamasome dysregulation, including classical periodic fevers such as Familial Mediterranean fever or cryopyrinopathies, pyogenic and granulomatous diseases and other entities.
However, the overall concept of inflammatory disorders has been further enhanced by new research that document the complexity of the inflammatory response. The article includes an overview of classical disorders and further new insight into autoinflammatory diseases classified according to their precise molecular cause.
New division includes classical disorders of inflammasome function, then disorders of NFkB signaling, which include some originally granulomatous diseases such as m.Blau. Newly added interferonopathies and a small group of so-called monogenic vasculitis contribute to the overal picture of autoinflammation.
Accurate diagnosis is particularly important in terms of approach to patient therapy, which has to reflect interventions in the individual pathways and includes mainly blockade of inflammatory cytokines, together with targeted interventions in activated signaling pathways.