Clinical and biochemical landmarks in systemic autoinflammatory diseases.

摘要: Systemic autoinflammatory diseases are a group of inherited disorders the innate immune system characterized by seemingly unprovoked inflammation recurring at variable intervals and involving skin, serosal membranes, joints, gastrointestinal apparatus, with reactive amyloidosis as possible severe long-term complication. Recent advances in genetics molecular biology have improved our understanding pathogenesis these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic cryopyrin-associated syndromes, hereditary pyogenic granulomatous disorders: vast majority conditions related to activation interleukin-1 pathway, which results (or from?) common unifying pathogenetic mechanism. Their diagnostic identification derives from combination clinical data, evaluation acute phase reactants, efficacy response specific drugs, recognition mutations relevant genes, although genetic tests may be unconstructive some cases. This review will discuss laboratory clues useful for approach systemic diseases.