Systemic autoinflammatory diseases.
Systemic autoinflammatory diseases.
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DOI：
10.1016/j.jaut.2020.102421
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发表时间：
2020-05
影响因子：
12.8
通讯作者：
Weinhäusel A
中科院分区：
文献类型：
--
作者：
Krainer J;Siebenhandl S;Weinhäusel A
系统性自身炎症性疾病（SAIDs）是一种越来越多的疾病，由先天免疫系统失调导致全身性炎症发作引起。1997年，MEFV是第一个被确定为引起家族性地中海热的基因，家族性地中海热是最常见的遗传性SAID。在大多数情况下，自身炎症性疾病具有单一基因突变的强大遗传背景。自1997年以来，已经发现了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%具有典型SAIDs表型的患者，无法满足明确的诊断，导致未定义的SAIDs （uSAIDs）。然而，saaids也可能是多基因或多因子的起源，环境影响调节表型。将适应性免疫系统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SAIDs的复杂性以及阐明SAIDs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。从发病到诊断需要长达7.3年的时间，这凸显了确定新的治疗和诊断目标的无可争议的必要性。最近，其他因素也在研究中，作为saaids发病机制的附加因素。本文综述了SAIDs的发病机制和病因，并总结了最近的诊断和治疗方案。
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, auto-inflammatory 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.
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