Al-Hakim Adam, Mistry Anoop, Savic Sinisa
Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UK.
Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, UK.
J Inflamm Res. 2022 Oct 10;15:5739-5755. doi: 10.2147/JIR.S343261. eCollection 2022.
Systemic autoinflammatory diseases (SAID) are conditions caused by dysregulation or disturbance of the innate immune system, with neutrophils and macrophages the main effector cells. Although there are now more than 40 distinct, genetically defined SAIDs, the genetic/molecular diagnosis remains unknown for a significant proportion of patients with the disease onset in adulthood. This review focuses on new developments related to acquired/late onset SAID, including phenocopies of monogenic disorders, Schnitzler's syndrome, Adult onset Still's disease, VEXAS syndrome, and autoinflammatory complications associated with myelodysplastic syndrome.
系统性自身炎症性疾病（SAID）是由先天性免疫系统失调或紊乱引起的疾病，中性粒细胞和巨噬细胞是主要效应细胞。尽管目前有40多种不同的、有基因定义的SAID，但相当一部分成年发病的患者的基因/分子诊断仍不明确。本综述重点关注与获得性/晚发性SAID相关的新进展，包括单基因疾病的拟表型、施尼茨勒综合征、成人斯蒂尔病、VEXAS综合征以及与骨髓增生异常综合征相关的自身炎症并发症。
