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

Frederico Augusto Gurgel Pinheiro, Joao Gabriel Dantas, Erika Biegelmeyer, Eduarda Bonelli Zarur

Journal: Advances in rheumatology (London, England) 2024;64(1):79

PMID: 39385260

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.

Address: Rheumatology Division, Universidade Federal de São Paulo, Rua Botucatu, 740, 3° andar, São Paulo, SP, 04023-062, Brazil.; Rheumatology Division, Universidade Federal de São Paulo, Rua Botucatu, 740, 3° andar, São Paulo, SP, 04023-062, Brazil. [email protected].

DOI: 10.1186/s42358-024-00421-8

Link outs

Free resources

Medical:

https://medlineplus.gov/rarediseases.html

Miscellaneous:

https://assays.cancer.gov/CPTAC-136

Research Materials:

https://antibodies.cancer.gov/detail/CPTC-UBA1-1

MeSH Terms: Humans, Adenosine Deaminase, Rare Diseases, Cogan Syndrome, Susac Syndrome, Systemic Vasculitis, Agammaglobulinemia, Mutation, Vasculitis, Intercellular Signaling Peptides and Proteins