Autoinflammatory Diseases in Childhood

Abstract

Autoinflammatory diseases are characterized by recurrent feversand clinical findings of impaired natural immunity and can involvevarious organ systems. The concept of autoinflammatory diseaseemerged after the definition of familial Mediterranean fever andtumor necrosis factor receptor-associated periodic syndrome. Thisnew disease group was considered to differ from the standard conceptof autoimmune diseases, which is relatively better known in terms ofbasic features, such as defects in innate immunity and the absence ofantibodies. A better understanding has been achieved regarding thegenetic and pathogenetic mechanisms of this relatively new diseasegroup over the past 20 years since they were first diagnosed, whichhave led to some changes in the concept of autoinflammatory diseases.The recent definition classifies autoinflammatory disease to be a widerange of diseases with different clinical features, mainly accompaniedby changes in innate immune and rarely in humoral immunity. Thespectrum of autoinflammatory diseases is rapidly expanding owing torecent developments in molecular sciences and genetics. This reviewarticle discusses the clinical features, classification criteria, treatmentoptions, and long-term prognosis of periodic fever, aphthous stomatitis,pharyngitis, adenitis syndrome, and other common autoinflammatorydiseases in the light of current literature.