[The role of interleukin-1 and interleukin-1-receptor antagonist in development of familial mediterranean fever and other autoinflammatory diseases].

Autoinflammatory diseases constitute a group of genetic disorders whose main clinical features are recurrent episodes of inflammatory lesions that can affect the skin, joints, bones, eyes, gastrointestinal tract and nervous system, in association with signs of systemic inflammation. Example of these disorders is familial Mediterranean fever (FMF). FMF is an autosomal recessive disease characterized by recurrent episodes of fever and inflammation affecting serosal surfaces, joints and skin. The gene of FMF is expressed in granulocytes, monocytes, dendritic cells and serosal and sinovial fibroblasts, which result in formation of pyrin. A large percentage of FMF-associated pyrin mutations reside in C-terminal B30.2 domain. Pyrin normally suppresses IL-1β, but when mutated in case of FMF, it does not. Inhibition of the interaction between pyrin and caspase-1 leads to an increase in caspase-1 activity and subsequent increase in IL-1β secretion. The interleukin-1-receptor antagonist binds to the interleukin-1 receptor, thereby blocking access of interleukin-1 to the receptor. The outcome of an inflammatory process is likely to be affected by the relative amounts of interleukin-1 and interleukin-1-receptor antagonist.