The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1)
The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1)
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1型自身免疫性多腺体综合征（APS-1）的免疫生物学和临床特征
DOI：
10.1016/j.autrev.2017.11.012
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发表时间：
2018-01-01
影响因子：
13.6
通讯作者：
Gershwin, M. Eric
中科院分区：
文献类型：
--
作者：
Guo, Can-Jie;Leung, Patrick S. C.;Gershwin, M. Eric
自身免疫性多腺体综合征1型（APS-1）是自身免疫性多内分泌综合征的一种亚型，其特征在于多个内分泌或非内分泌腺体的同时或顺序功能障碍。APS-1的临床诊断通常基于以下三个标准中的至少两个的存在：慢性粘膜皮肤念珠菌病、甲状旁腺功能减退和肾上腺功能不全。APS-1的第一个确定的致病突变基因是自身免疫调节因子（AIRE），其编码一种关键转录因子，其主要在胸腺髓质上皮细胞（mTECs）中表达，用于产生中枢免疫耐受。广泛的慢性、使人衰弱的并发症，与遗传学没有明显的相关性，使得APS-1的诊断在病程早期具有挑战性。管理APS-1是困难的，因为它的复杂性，特别是表现和基因突变之间的错综复杂的关系。在过去的几十年里，在阐明AIRE的功能和在APS-1中进行大规模队列研究方面取得了巨大进展。然而，在APS-1中尚未建立明确的循证指南。在这篇综述中，我们提供了一个详细的研究历史，流行病学，临床特点，APS-1的自身免疫性相关机制，以及目前可用的治疗这种自身免疫性疾病的关键概述。(C)2017爱思唯尔B. V.保留所有权利。
Autoimmune Polyglandular Syndrome type 1 (APS-1) is a subtype of the autoimmune polyendocrine syndrome characterized by the simultaneous or sequential dysfunction of multiple endocrine or non-endocrine glands. A clinical diagnosis of APS-1 is typically based on the presence of at least two of three following criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. The first identified causative mutated gene for APS-1 is autoimmune regulator (AIRE) encoding a critical transcription factor, which is primarily expressed in the medullary thymic epithelial cells (mTECs) for generating central immune tolerance. A wide range of chronic, debilitating complications, with no obvious correlation with genetics, makes a diagnosis of APS-1 challenging early in the disease course. Managing APS-1 is difficult due to its complexity, especially the intricate relationships within manifestations and genetic mutations. The past decades have witnessed dramatic progress in elucidating the function of AIRE and conducting large-scale cohort studies in APS-1. However, no clear evidence-based guidelines have been established in APS-1. In this review, we provide a detailed critical overview of the study history, epidemiology, clinical features, and related mechanisms of autoimmunity in APS-1, as well as currently available therapies for this autoimmune disorder. (C) 2017 Elsevier B.V. All rights reserved.