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

Adv Rheumatol

Rheumatology Division, Universidade Federal de São Paulo, Rua Botucatu, 740, 3° andar, São Paulo, SP, 04023-062, Brazil.

Published: October 2024

AI Article Synopsis

  • Systemic vasculitis is a rare group of diseases characterized by inflammation of blood vessel walls, with varying specific features for each type.
  • The paper focuses on recent findings related to monogenic mutations in vasculitis, specifically ADA2 deficiency and VEXAS syndrome.
  • It will also discuss Cogan syndrome and Susac syndrome, which may exhibit similar traits to these newer forms of vasculitis.

Article 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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Source
http://dx.doi.org/10.1186/s42358-024-00421-8DOI Listing

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