Abstract
Since the molecular characterization of periodic fever syndromes led to the concept of autoinflammation, the pace of scientific advancement in this field has been dramatic. Here, we review many of the most impactful new discoveries in autoinflammation, as presented at the 2024 Pediatric Rheumatology European Society Congress. This includes new genes and diseases, such as SHARPIN mutations and dominant-negative mutations in OTULIN as causes of disorders of ubiquitination, PMVK mutations as potential causes of a mevalonate kinase deficiency mimic, and ARF1 and REXO2 as causes of interferonopathy. Several new molecular mechanisms and mutations were also reported for older diseases including coatomer protein complex subunit alpha (COPA) syndrome, Aicardi-Goutières syndrome, PLCG2-associated immune dysregulation (PLAID), and NLRP3-AID. Finally, molecular and omics studies of STING1-associated vasculopathy with onset in infancy (SAVI) and haploinsufficiency of A20 (HA20) contributed to advances in underlying autoinflammatory biology.