Rheumatology Division, Universidade Federal de São Paulo, Rua Botucatu, 740, 3° andar, São Paulo, SP, 04023-062, Brazil.
Adv Rheumatol. 2024 Oct 9;64(1):79. doi: 10.1186/s42358-024-00421-8.
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.
系统性血管炎是一组罕见疾病，它们具有一个共同的特征：血管壁炎症。这种损伤发生在疾病过程中，但每种疾病的具体特征都有所不同。在本文中，我们将讨论最新的单基因突变血管炎，如腺苷脱氨酶 2 缺乏症（ADA2）和 VEXAS 综合征（UBA1），以及其他相关血管炎，如 Cogan 综合征和 Susac 综合征，它们可能与这些疾病有一些相似之处。
