Le sindromi autoinfiammatorie come nuovo capitolo della medicina post-genomica

[Autom. eng. transl.] Autoinflammatory syndromes constitute a group of inherited and acquired diseases of innate immunity that are characterized by the recurrence of febrile episodes that last from a few days to a few weeks and are accompanied by signs of multi-district inflammation of varying severity affecting the skin, of the serous, of the gastro-intestinal tract, of the osteo-articular system, etc. The vast majority of such conditions when observed in pediatrics are caused by mutations in genes involved in the control of inflammation and apoptosis mechanisms. The group includes hereditary periodic fevers, hereditary pyogenic disorders, skeletal autoinflammatory diseases, immune-mediated granulomatous diseases, idiopathic febrile syndromes, complement disorders, hemophagocytic and vasculitic syndromes. Their diagnostic identification derives from the integration of anamnestic-clinical and biohumoral data, but can be supported in some cases by genotypic studies.