Rare primary vasculitis: update on multiple complex diseases and the new kids on the block.

IF 2 4区 医学 Q3 RHEUMATOLOGY Advances in Rheumatology Pub Date : 2024-10-09 DOI:10.1186/s42358-024-00421-8
Joao Gabriel Dantas, Erika Biegelmeyer, Eduarda Bonelli Zarur, Frederico Augusto Gurgel Pinheiro
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Abstract

Systemic vasculitis is a group of rare diseases that share an essential characteristic: inflammation of blood vessel walls. This injury occurs during the disease course, but specific features vary for each entity. In this paper, we will address relevant aspects of the newest monogenic mutation vasculitis, such as deficiency of adenosine deaminase 2 (ADA2) and VEXAS syndrome (UBA1), and other relevant vasculitis, such as Cogan syndrome and Susac syndrome that may share some similarities with them.

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罕见的原发性血管炎:关于多种复杂疾病和新发疾病的最新进展。
全身性血管炎是一组罕见疾病,它们有一个共同的基本特征:血管壁发炎。这种损伤发生在病程中,但每个实体的具体特征各不相同。在本文中,我们将讨论最新的单基因突变性血管炎的相关方面,如腺苷脱氨酶 2(ADA2)缺乏症和 VEXAS 综合征(UBA1),以及其他相关的血管炎,如 Cogan 综合征和苏萨克综合征,它们可能有一些相似之处。
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来源期刊
Advances in Rheumatology
Advances in Rheumatology Medicine-Rheumatology
CiteScore
4.00
自引率
4.30%
发文量
41
审稿时长
53 weeks
期刊介绍: Formerly named Revista Brasileira de Reumatologia, the journal is celebrating its 60th year of publication. Advances in Rheumatology is an international, open access journal publishing pre-clinical, translational and clinical studies on all aspects of paediatric and adult rheumatic diseases, including degenerative, inflammatory and autoimmune conditions. The journal is the official publication of the Brazilian Society of Rheumatology and welcomes original research (including systematic reviews and meta-analyses), literature reviews, guidelines and letters arising from published material.
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