Diagnosis and management of ADA2 deficient polyarteritis nodosa

Int J Rheum Dis. 2019 Jan:22 Suppl 1:69-77. doi: 10.1111/1756-185X.13283. Epub 2018 Apr 6.

Abstract

Deficiency of ADA2 (DADA2) is a recently described systemic inflammatory vasculopathy caused by mutations in the CERC1 gene that often, but not always, clinically resembles polyarteritis nodosa (PAN). The condition was originally characterized by livedoid rash, systemic inflammation, variable hypogammaglobulinemia, and early-onset stroke. The phenotypic spectrum has expanded to include patients with immunodeficiency syndromes and bone marrow dysfunction, which are not typical features of PAN. Exploration into the pathogenesis and treatment options of DADA2 has added to our understanding of this condition, but more studies are needed. The purpose of this article is to review the various clinical phenotypes of DADA2, and raise awareness among rheumatologists to consider DADA2 when evaluating patients presenting with PAN-like disease.

Keywords: deficiency of ADA2; early-onset stroke; polyarteritis nodosa; vasculitis.

Publication types

  • Review

MeSH terms

  • Adenosine Deaminase / deficiency*
  • Adenosine Deaminase / genetics
  • Genetic Predisposition to Disease
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Immunosuppressive Agents / adverse effects
  • Immunosuppressive Agents / therapeutic use*
  • Intercellular Signaling Peptides and Proteins / deficiency*
  • Intercellular Signaling Peptides and Proteins / genetics
  • Mutation
  • Phenotype
  • Plasma Exchange
  • Polyarteritis Nodosa / diagnosis*
  • Polyarteritis Nodosa / drug therapy*
  • Polyarteritis Nodosa / genetics
  • Polyarteritis Nodosa / immunology
  • Predictive Value of Tests
  • Treatment Outcome

Substances

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