Current and future advances in genetic testing in systemic autoinflammatory diseases
Current and future advances in genetic testing in systemic autoinflammatory diseases
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DOI：
10.1093/rheumatology/kez294
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发表时间：
2019-11-01
期刊：
影响因子：
5.5
通讯作者：
Aksentijevich, Ivona
中科院分区：
文献类型：
--
作者：
Schnappauf, Oskar;Aksentijevich, Ivona
系统性自身炎性疾病（systemic autoinflammatory diseases，SAIDs）是一组由先天免疫系统失调引起的炎症性疾病，其导致增强的免疫应答。SAID的临床诊断可能很困难，因为这些疾病是罕见的疾病，具有相当大的表型重叠。大多数SAID有很强的遗传背景，但环境和表观遗传影响可以调节临床表型。分子诊断已成为临床诊断确认必不可少的。迄今为止，有超过30个基因和各种遗传模式与单基因SAID相关。同一基因的突变可能导致非常不同的表型，并可能具有不同的遗传模式。此外，体细胞突变已报告在这些条件中的几个。目前正在开发新的基因检测方法和数据库，以便利艾滋病的分子诊断，这对治疗、预后和遗传咨询具有重大意义。本文综述了SAIDs基因检测的最新进展，并讨论了SAIDs分子诊断过程中可能出现的障碍。
Systemic autoinflammatory diseases (SAIDs) are a group of inflammatory disorders caused by dysregulation in the innate immune system that leads to enhanced immune responses. The clinical diagnosis of SAIDs can be difficult since individually these are rare diseases with considerable phenotypic overlap. Most SAIDs have a strong genetic background, but environmental and epigenetic influences can modulate the clinical phenotype. Molecular diagnosis has become essential for confirmation of clinical diagnosis. To date there are over 30 genes and a variety of modes of inheritance that have been associated with monogenic SAIDs. Mutations in the same gene can lead to very distinct phenotypes and can have different inheritance patterns. In addition, somatic mutations have been reported in several of these conditions. New genetic testing methods and databases are being developed to facilitate the molecular diagnosis of SAIDs, which is of major importance for treatment, prognosis and genetic counselling. The aim of this review is to summarize the latest advances in genetic testing for SAIDs and discuss potential obstacles that might arise during the molecular diagnosis of SAIDs.