Treg-associated monogenic autoimmune disorders and gut microbial dysbiosis.
Treg-associated monogenic autoimmune disorders and gut microbial dysbiosis.
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DOI：
10.1038/s41390-021-01445-2
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发表时间：
2022-01
影响因子：
3.6
通讯作者：
Rhoads JM
中科院分区：
文献类型：
--
作者：
Liu Y;Freeborn J;Armbrister SA;Tran DQ;Rhoads JM
由单基因缺陷引起的原发性免疫缺陷病（PID）通常被称为单基因自身免疫性疾病。例如，转录因子自身免疫调节因子（AIRE）的突变会导致一种称为自身免疫性多内分泌病-念珠菌病-外胚层营养不良症（APECED）的疾病；叉头框 P3 (Foxp3) 突变会导致 Treg 缺陷引起的多器官炎症，在人类中被称为“免疫失调、多内分泌病、X 连锁遗传性肠病”（或 IPEX 综合征）。先前的研究得出结论，单基因疾病对共生微生物的调节不敏感，因为它们甚至在无菌 (GF) 动物中也会发生，这一结论限制了确定微生物群在单基因 PID 中的作用的研究数量。然而，新出现的证据表明，尽管疾病的发作与微生物群无关，但几种单基因 PID 的严重程度与微生物群相关。在这篇综述中，我们重点关注与 Treg 缺乏/功能障碍相关的单基因 PID，总结了已被证明与这些疾病相关的肠道微生物失调。从有限的研究中，我们收集到了一些机制见解，这些见解可能被证明在生命早期阶段具有治疗重要性。
Primary immunodeficiency diseases (PIDs) caused by a single-gene defect generally are referred as monogenic autoimmune disorders. For example, mutations in the transcription factor autoimmune regulator (AIRE) result in a condition called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); mutations in forkhead box P3 (Foxp3) lead to Treg-deficiency-induced multiorgan inflammation, which in humans is called “immune dysregulation, polyendocrinopathy, enteropathy with X-linked inheritance” (or IPEX syndrome). Previous studies concluded that monogenic diseases are insensitive to commensal microbial regulation because they develop even in germ-free (GF) animals, a conclusion which has limited the number of studies determining the role of microbiota in monogenic PIDs. However, emerging evidence shows that although the onset of the disease is independent of the microbiota, several monogenic PIDs vary in severity in association with the microbiome. In this review, we focus on monogenic PIDs associated with Treg-deficiency/dysfunction, summarizing the gut microbial dysbiosis that has been shown to be linked to these diseases. From limited studies, we have gleaned several mechanistic insights that may prove to be of therapeutic importance in the early stages of life.
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影响因子：
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作者：
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通讯作者：
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DOI：
10.1097/mpg.0000000000001262
发表时间：
2017-03-01
影响因子：
2.9
作者：
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通讯作者：
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