Other Rare Monogenic Autoinflammatory Diseases

Abstract

Over the past decade, major advances have been m`ade in understanding the molecular and cellular bases leading to autoinflammatory diseases, and a number of very rare entities have been described. Next-generation sequencing technologies led to the rapid identification of a number of additional genes responsible for syndromes observed in only a very small number of families or in sporadic cases. The identification of all these new genes and associated molecular pathways underlines that activation of interleukin (IL)-1β signaling is far from being the only pathogenic process involved in autoinflammatory disorders. Genetic defects found in patients with rare monogenic autoinflammatory diseases might also facilitate the study of common autoinflammatory diseases with a genetic component. Since these disorders affect multiple organs with potentially severe complications, management of patients is complex and warrants a multidisciplinary approach. Finally, it is necessary to translate discoveries of the pathophysiology of these conditions into more effective therapies, since the choice of therapeutic options often remains empirical.