Lights and shadows in autoinflammatory syndromes from the childhood and adulthood perspective

摘要

In a high percentage of cases, the monogenic autoinflammatory syndromes (AIS), caused by subversion in the inflammasome homeostasis leading to cytokine oversecretion and characterized by multiple inflammatory pictures, start in childhood. However, the description of tardive manifestations, veiled phenotypes, and atypical clinical signs beginning in adulthood has been more and more reported in recent times, requiring that many specialists become confident with concepts, details, and management strategies of AIS. Differences between child- and adult-onset syndromes raise the question of whether pathogenic mechanisms might differ when the timetable of AIS onset diverges, but show that carefulness is needed to establish a straightforward diagnosis.