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

Adv Rheumatol. 2024 Oct 9;64(1):79. doi: 10.1186/s42358-024-00421-8.

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.

Keywords: ADA2 deficiency; Autoinflammation; Autoinflammatory and somatic syndrome; Cogan syndrome; DADA2; Deficiency of adenosine deaminase 2; E1 enzyme; Hematologic defects syndrome; Immunodeficiency; Retinocochleocerebral vasculopathy; Susac syndrome; VAIHS vasculitis; VEXAS; Vacuoles; X-linked.

Publication types

  • Review

MeSH terms

  • Adenosine Deaminase* / deficiency
  • Adenosine Deaminase* / genetics
  • Agammaglobulinemia / complications
  • Cogan Syndrome / complications
  • Humans
  • Intercellular Signaling Peptides and Proteins
  • Mutation
  • Rare Diseases*
  • Susac Syndrome / complications
  • Susac Syndrome / diagnosis
  • Systemic Vasculitis / diagnosis
  • Vasculitis

Substances

  • Adenosine Deaminase
  • ADA2 protein, human
  • Intercellular Signaling Peptides and Proteins