Monogenic polyautoimmunity in primary immunodeficiency diseases
Monogenic polyautoimmunity in primary immunodeficiency diseases
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DOI：
10.1016/j.autrev.2018.05.001
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发表时间：
2018-10-01
影响因子：
13.6
通讯作者：
Anaya, Juan-Manuel
中科院分区：
文献类型：
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作者：
Azizi, Gholamreza;Yazdani, Reza;Anaya, Juan-Manuel
原发性免疫缺陷病（PID）由影响免疫系统不同组成部分的一大组遗传性疾病组成。PID患者易受感染和非感染性并发症，特别是自身免疫。一组特定的单基因PID是由于对免疫耐受和免疫应答的调节至关重要的基因突变引起的。这组单基因PID具有发展多自身免疫的高风险（即，在单个患者中存在一种以上的自身免疫性疾病）。在这篇综述中，我们讨论了PID中自身免疫的机制以及以下PID中多自身免疫的特征：IPEX;单基因IPEX样综合征; LRBA缺乏症; CTLA 4缺乏症; APECED; ALPS;和PKC 6缺乏症。
Primary immunodeficiency diseases (PIDs) consist of a large group of genetic disorders that affect distinct components of the immune system. PID patients are susceptible to infection and non-infectious complications, particularly autoimmunity. A specific group of monogenic PIDs are due to mutations in genes that are critical for the regulation of immunological tolerance and immune responses. This group of monogenic PIDs is at high risk of developing polyautoimmunity (i.e., the presence of more than one autoimmune disease in a single patient) because of their impaired immunity. In this review, we discuss the mechanisms of autoimmunity in PIDs and the characteristics of polyautoimmunity in the following PIDs: IPEX; monogenic IPEX-like syndrome; LRBA deficiency; CTLA4 deficiency; APECED; ALPS; and PKC6 deficiency.