Still’s disease is a rare inflammatory syndrome that encompasses systemic juvenile idiopathic arthritis and adult-onset Still’s disease, both of which can exhibit life-threatening complications, including macrophage activation syndrome (MAS), a secondary form of haemophagocytic lymphohistiocytosis. Genetic insights into Still’s disease involve both HLA and non-HLA susceptibility genes, suggesting the involvement of adaptive immune cell-mediated immunity. At the same time, phenotypic evidence indicates the involvement of autoinflammatory processes. Evidence also implicates the type I interferon signature, mechanistic target of rapamycin complex 1 signalling and ferritin in the pathogenesis of Still’s disease and MAS. Pathological entities associated with Still’s disease include lung disease that could be associated with biologic DMARDs and with the occurrence of MAS. Historically, monophasic, recurrent and persistent Still’s disease courses were recognized. Newer proposals of alternative Still’s disease clusters could enable better dissection of clinical heterogeneity on the basis of immune cell profiles that could represent diverse endotypes or phases of disease activity. Therapeutically, data on IL-1 and IL-6 antagonism and Janus kinase inhibition suggest the importance of early administration in Still’s disease. Furthermore, there is evidence that patients who develop MAS can be treated with IFNγ antagonism. Despite these developments, unmet needs remain that can form the basis for the design of future studies leading to improvement of disease management.

斯蒂尔病是一种罕见的炎症综合征，包括全身性幼年特发性关节炎和成人发病的斯蒂尔病，这两种疾病都可能出现危及生命的并发症，包括巨噬细胞激活综合征（MAS），这是噬血细胞淋巴组织细胞增多症的一种继发形式。对斯蒂尔病的遗传学研究涉及 HLA 和非 HLA 易感基因，表明适应性免疫细胞介导的免疫参与其中。同时，表型证据表明自身炎症过程的参与。证据还表明 I 型干扰素特征、雷帕霉素复合物 1 信号传导的机制靶标和铁蛋白在斯蒂尔病和 MAS 的发病机制中。与斯蒂尔病相关的病理实体包括可能与生物 DMARD 和 MAS 的发生相关的肺部疾病。历史上，人们认识到单相、复发性和持续性斯蒂尔病病程。替代斯蒂尔病簇的新提议可以在代表不同内型或疾病活动阶段的免疫细胞谱的基础上更好地剖析临床异质性。在治疗上，IL-1 和 IL-6 拮抗作用以及 Janus 激酶抑制作用的数据表明早期给药对于斯蒂尔病的重要性。此外，有证据表明发生 MAS 的患者可以接受 IFNγ 拮抗剂治疗。尽管取得了这些进展，但未满足的需求仍然存在，这可以构成未来研究设计的基础，从而改善疾病管理。