染色体畸变和自身免疫：与18p缺失和其他染色体畸变相关的免疫介导疾病。

IF 9.2 1区医学 Q1 IMMUNOLOGY

Autoimmunity reviews Pub Date : 2025-01-02 DOI:10.1016/j.autrev.2024.103740

Camilla Cirone Papa Giannotti , Renan Rodrigues Neves Ribeiro do Nascimento , Maria Teresa Terreri , Luis Eduardo Coelho Andrade , Sandro Félix Perazzio

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引用次数: 0

摘要

基因组方法学的最新进展显著增强了我们对免疫介导的风湿病的理解。特异性结构变异（SVs），如大量DNA缺失或插入，包括染色体畸变，与免疫失调疾病有关。令人遗憾的是，在下一代测序（NGS）靶向基因面板、全外显子组测序（WES）和全基因组测序（WGS）中，SVs经常被忽视。鉴于一例染色体18p缺失综合征，以低γ球蛋白血症和自身炎症表型为特征，我们提供了与多种免疫介导疾病相关的染色体畸变的全面回顾，突出了与免疫介导疾病相关的各种染色体畸变的临床方面。功能测试的进一步研究和发展将有助于阐明染色体畸变与原发性免疫调节障碍（PIRD）之间的机制联系，为自身炎症和自身免疫性疾病领域带来新的视角。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations

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Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations

Recent advances in genomic methodologies have significantly enhanced our understanding of immune-mediated rheumatic diseases. Specific structural variants (SVs), such as substantial DNA deletions or insertions, including chromosomal aberrations, have been implicated in diseases of immune dysregulation. Regrettably, SVs are frequently overlooked in next-generation sequencing (NGS) targeted-gene panels, whole exome sequencing (WES) and whole genome sequencing (WGS). In view of a case of chromosome 18p deletion syndrome, characterized by hypogammaglobulinemia and an autoinflammatory phenotype, we provide a comprehensive review on chromosome aberrations associated with multiple immune-mediated conditions, highlighting the clinical aspects of the various chromosome aberrations associated with immune-mediated diseases. Further investigations and development of functional tests should contribute to elucidate the mechanistic connection between chromosome aberrations and Primary Immune Regulatory Disorders (PIRD), bringing novel perspectives in the field of autoinflammatory and autoimmune diseases.

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来源期刊

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.