Auto-immuno-deficiency syndromes

IF 9.2 1区 医学 Q1 IMMUNOLOGY Autoimmunity reviews Pub Date : 2024-09-01 DOI:10.1016/j.autrev.2024.103610
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Abstract

Autoimmune diseases constitute a broad, heterogenous group with many diverse and often overlapping symptoms. Even so, they are traditionally classified as either systemic, rheumatic diseases or organ-directed diseases.

Several theories exist about autoimmune diseases, including defective self-recognition, altered self, molecular mimicry, bystander activation and epitope spreading. While there is no consensus about these theories, it is generally accepted that genetic, pre-disposing factors in combination with environmental factors can result in autoimmune disease. The relative contribution of genetic and environmental factors varies between diseases, as does the significance of individual contributing factors within related diseases.

Among the genetic factors, molecules involved in antigen (Ag) recognition, processing, and presentation stand out (e.g., MHC I and II) together with molecules involved in immune signaling and regulation of cellular interactions (i.e., immuno-phenotypes). Also, various immuno-deficiencies have been linked to development of autoimmune diseases. Among the environmental factors, infections (e.g., viruses) have attracted most attention, but factors modulating the immune system have also been the subject of much research (e.g., sunlight and vitamin D).

Multiple sclerosis currently stands out due to a very strong and proven association with Epstein-Barr virus infection, notably in cases of late infection and in cases of EBV-associated mononucleosis.

Thus, a common picture is emerging that both systemic and organ-directed autoimmune diseases may appropriately be described as auto-immuno-deficiency syndromes (AIdeSs), a concept that emphasizes and integrates existing knowledge on the role of immuno-deficiencies and chronic infections with development of overlapping disease syndromes with variable frequencies of autoantibodies and/or autoreactive T cells.

This review integrates and exemplifies current knowledge on the interplay of genetically determined immuno-phenotypes and chronic infections in the development of AIdeSs.

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自身免疫缺陷综合征。
自身免疫性疾病是一个广泛的异质性群体,症状多种多样,而且往往相互重叠。即便如此,它们传统上仍被归类为系统性疾病、风湿性疾病或器官定向疾病。关于自身免疫性疾病有几种理论,包括自我识别缺陷、自我改变、分子模仿、旁观者激活和表位传播。虽然对这些理论还没有达成共识,但人们普遍认为,遗传、先赋性因素与环境因素结合可导致自身免疫性疾病。遗传因素和环境因素在不同疾病中的相对作用各不相同,而在相关疾病中,单个致病因素的重要性也不尽相同。在遗传因素中,参与抗原(Ag)识别、处理和呈现的分子(如 MHC I 和 II)以及参与免疫信号传递和细胞相互作用调节的分子(即免疫表型)最为突出。此外,各种免疫缺陷也与自身免疫性疾病的发生有关。在环境因素中,感染(如病毒)最受关注,但调节免疫系统的因素(如阳光和维生素 D)也是许多研究的主题。多发性硬化症目前比较突出,因为它与 Epstein-Barr 病毒感染(尤其是晚期感染病例和 EBV 相关单核细胞增多症病例)有非常密切的关系,而且已得到证实。因此,一个共同的观点正在形成,即全身性和器官定向的自身免疫性疾病都可以恰当地描述为自身免疫缺陷综合征(AIdeSs),这一概念强调并整合了现有的关于免疫缺陷和慢性感染在自身抗体和/或自身反应性 T 细胞频率可变的重叠性疾病综合征中的作用的知识。本综述整合并举例说明了目前关于由基因决定的免疫表型和慢性感染在 AIdeSs 发展过程中的相互作用的知识。
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来源期刊
Autoimmunity reviews
Autoimmunity reviews 医学-免疫学
CiteScore
24.70
自引率
4.40%
发文量
164
审稿时长
21 days
期刊介绍: Autoimmunity Reviews is a publication that features up-to-date, structured reviews on various topics in the field of autoimmunity. These reviews are written by renowned experts and include demonstrative illustrations and tables. Each article will have a clear "take-home" message for readers. The selection of articles is primarily done by the Editors-in-Chief, based on recommendations from the international Editorial Board. The topics covered in the articles span all areas of autoimmunology, aiming to bridge the gap between basic and clinical sciences. In terms of content, the contributions in basic sciences delve into the pathophysiology and mechanisms of autoimmune disorders, as well as genomics and proteomics. On the other hand, clinical contributions focus on diseases related to autoimmunity, novel therapies, and clinical associations. Autoimmunity Reviews is internationally recognized, and its articles are indexed and abstracted in prestigious databases such as PubMed/Medline, Science Citation Index Expanded, Biosciences Information Services, and Chemical Abstracts.
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