Where AIRE we now? Where AIRE we going?

IF 3 4区 医学 Q2 ALLERGY
Patrick Bez, Martina Ceraudo, Fabrizio Vianello, Marcello Rattazzi, Riccardo Scarpa
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引用次数: 0

Abstract

Purpose of review: The purpose of the review is to describe the most recent advancement in understanding of the pivotal role of autoimmune regulator ( AIRE ) gene expression in central and peripheral tolerance, and the implications of its impairment in the genetic and pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) manifestations with insight into possible treatment options.

Recent findings: AIRE gene expression has an important role of central and peripheral tolerance. Different AIRE gene mutations cause APECED, whereas polymorphisms and some variants may be implicated in development of other more frequently autoimmune diseases. Impaired negative T cell selection, reduction of T regulatory function, altered germinal center response, activated B cells and production of autoantibodies explain the development of autoimmunity in APECED. Recent data suggest that an excessive interferon-γ response may be the primer driver of the associated organ damage. Therefore, Janus kinase (JAK)-inhibitors may be promising therapies for treatment of broad spectrum of manifestations.

Summary: AIRE has a pivotal role in immune tolerance. Disruption of this delicate equilibrium results in complex immune perturbation, ranging from severe autoimmunity, like APECED, to more common organ-specific disorders. Therefore, a deeper understanding of the correlation between AIRE function and clinical phenotype is warranted given the potential translational implication in clinical practice.

我们现在在哪里?我们要去哪里?
综述的目的:本综述旨在描述对自身免疫调节因子(AIRE)基因表达在中枢和外周耐受性中的关键作用的最新认识进展,以及自身免疫调节因子受损在自身免疫性多内分泌病-念珠菌病-外胚层营养不良症(APECED)的遗传和发病机制中的影响,并深入探讨可能的治疗方案:AIRE基因的表达对中枢和外周耐受性具有重要作用。不同的 AIRE 基因突变会导致 APECED,而多态性和某些变体可能与其他更常见的自身免疫性疾病的发生有关。负T细胞选择受损、T调节功能减弱、生殖中心反应改变、B细胞活化和自身抗体的产生解释了APECED中自身免疫的发展。最近的数据表明,过度的干扰素-γ反应可能是相关器官损伤的主要驱动因素。因此,Janus 激酶(JAK)抑制剂可能是治疗各种表现的有前途的疗法。破坏这种微妙的平衡会导致复杂的免疫紊乱,从严重的自身免疫(如 APECED)到更常见的器官特异性疾病,不一而足。因此,鉴于 AIRE 功能对临床实践的潜在转化意义,有必要深入了解 AIRE 功能与临床表型之间的相关性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
5.90
自引率
3.60%
发文量
109
审稿时长
6-12 weeks
期刊介绍: This reader-friendly, bimonthly resource provides a powerful, broad-based perspective on the most important advances from throughout the world literature. Featuring renowned guest editors and focusing exclusively on one to three topics, every issue of Current Opinion in Allergy and Clinical Immunology delivers unvarnished, expert assessments of developments from the previous year. Insightful editorials and on-the-mark invited reviews cover key subjects such as upper airway disease; mechanisms of allergy and adult asthma; paediatric asthma and development of atopy; food and drug allergies; and immunotherapy.
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