Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, 600 North Wolfe Street CMSC 1102, Baltimore, MD 21287, USA.
Division of Pediatric Rheumatology, Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center and Hackensack Meridian School of Medicine, 3WFAN 30 Prospect Avenue, Hackensack, NJ 07601, USA.
Rheum Dis Clin North Am. 2022 Feb;48(1):371-395. doi: 10.1016/j.rdc.2021.07.011.
Systemic autoinflammatory diseases (SAIDs) are characterized by unprovoked exaggerated inflammation on a continuum from benign recurrent oral ulceration to life-threatening strokes or amyloidosis, with renal failure as a potential sequela. The ability to discriminate these diagnoses rests on the genetic and mechanistic defect of each disorder, considering potential overlapping autoinflammation, autoimmunity, and immune deficiency. A comprehensive and strategic genetic investigation influences management as well as the consequential expected prognoses in these subsets of rare diseases. The ever-expanding therapeutic armamentarium reflects international collaborations, which will hasten genetic discovery and consensus-driven treatment.
全身性自身炎症性疾病（SAIDs）的特征是在良性复发性口腔溃疡到危及生命的中风或淀粉样变性的连续体上出现未经诱发的过度炎症，肾衰竭是其潜在的后遗症。鉴别这些诊断的能力取决于每种疾病的遗传和机制缺陷，同时考虑到潜在的重叠自身炎症、自身免疫和免疫缺陷。全面而战略性的遗传调查会影响这些罕见疾病亚组的管理以及随之而来的预期预后。不断扩大的治疗武器库反映了国际合作，这将加速遗传发现和基于共识的治疗。
