Rheumatology and Clinical Immunology IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.
Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, Italy.
Clin Exp Immunol. 2022 Dec 31;210(3):295-308. doi: 10.1093/cei/uxac098.
Autoinflammatory diseases represent a family of immune-mediated conditions characterized by the unchecked activation of innate immunity. These conditions share common clinical features such as recurrent fever, inflammatory arthritis, and elevation of acute phase reactants, in the absence of an identified infectious etiology, generally without detectable serum autoantibodies, with variable response to glucocorticoids and in some cases colchicine, which represented the mainstay of treatment until cytokine blockade therapies became available. The first autoinflammatory diseases to be described were monogenic disorders caused by missense mutations in inflammasome components and were recognized predominantly during childhood or early adulthood. However, the progress of genetic analyses and a more detailed immunological phenotyping capacity led to the discovery a wide spectrum of diseases, often becoming manifest or being diagnosed in the adult population. The beneficial role of targeting hyperinflammation via interleukin 1 in complex non-immune-mediated diseases is a field of growing clinical interest. We provide an overview of the autoinflammatory diseases of interest to physicians treating adult patients and to analyze the contribution of hyperinflammation in non-immune-mediated diseases; the result is intended to provide a roadmap to orient scientists and clinicians in this broad area.
自身炎症性疾病是一组由固有免疫失控激活引起的免疫介导性疾病。这些疾病具有共同的临床特征,如反复发热、炎症性关节炎和急性期反应物升高,在没有明确感染病因的情况下,通常没有可检测到的血清自身抗体,对糖皮质激素和某些情况下秋水仙碱的反应不一,这些药物曾是治疗的主要手段,直到细胞因子阻断疗法问世。首先描述的自身炎症性疾病是由炎性体成分的错义突变引起的单基因疾病,主要发生在儿童或成年早期。然而,遗传分析的进展和更详细的免疫表型能力导致发现了广泛的疾病谱,这些疾病通常在成年人群中表现出来或被诊断出来。通过靶向白细胞介素 1 来抑制过度炎症在复杂的非免疫介导性疾病中的有益作用是一个日益受到临床关注的领域。我们提供了一份对治疗成年患者的医生有帮助的自身炎症性疾病概述,并分析了过度炎症在非免疫介导性疾病中的作用;其结果旨在为科学家和临床医生在这个广泛的领域提供一个指导。