Systemic autoinflammatory diseases (SAIDs) are a growing group of disorders caused by a dysregulation of the innate immune system leading to episodes of systemic inflammation. In 1997, MEFV was the first gene identified as disease causing for Familial Mediterranean Fever, the most common hereditary SAID. In most cases, autoinflammatory diseases have a strong genetic background with mutations in single genes. Since 1997 more than 30 new genes associated with autoinflammatory diseases have been identified, affecting different parts of the innate immune system. Nevertheless, for at least 40-60% of patients with phenotypes typical for SAIDs, a distinct diagnosis cannot be met, leading to undefined SAIDs (uSAIDs). However, SAIDs can also be of polygenic or multifactorial origin, with environmental influence modulating the phenotype. The implementation of a disease continuum model combining the adaptive and the innate immune system with autoinflammatory and autoimmune diseases shows the complexity of SAIDs and the importance of new methods to elucidate molecular changes and causative factors in SAIDs. Diagnosis is often based on clinical presentation and genetic testing. The timeline from onset to diagnosis takes up to 7.3 years, highlighting the indisputable need to identify new treatment and diagnostic targets. Recently, other factors are under investigation as additional contributors to the pathogenesis of SAIDs. This review gives an overview of pathogenesis and etiology of SAIDs, and summarizes recent diagnosis and treatment options.

中文翻译：

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全身性自身炎症性疾病。

系统性自身炎症性疾病 (SAID) 是一组不断增长的疾病，由先天免疫系统失调引起，导致全身炎症发作。1997 年，MEFV 是第一个被确定为导致家族性地中海热（最常见的遗传性 SAID）疾病的基因。在大多数情况下，自身炎症性疾病具有很强的遗传背景，其中存在单基因突变。自 1997 年以来，已鉴定出 30 多个与自身炎症性疾病相关的新基因，影响先天免疫系统的不同部分。然而，对于至少 40-60% 具有 SAID 典型表型的患者，无法满足明确的诊断，从而导致未定义的 SAID (uSAID)。然而，SAID 也可以是多基因或多因素起源的，环境影响调节表型。将适应性和先天免疫系统与自身炎症和自身免疫性疾病相结合的疾病连续体模型的实施显示了 SAID 的复杂性以及阐明 SAID 分子变化和致病因素的新方法的重要性。诊断通常基于临床表现和基因检测。从发病到诊断的时间长达 7.3 年，这凸显了确定新的治疗和诊断目标的无可争议的需要。最近，正在研究其他因素作为 SAID 发病机制的其他因素。本综述概述了 SAID 的发病机制和病因学，并总结了最近的诊断和治疗方案。