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Diagnosis and management of ADA 2 deficient polyarteritis nodosa
Author(s) -
Human Andrea,
Pagnoux Christian
Publication year - 2019
Publication title -
international journal of rheumatic diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.795
H-Index - 41
eISSN - 1756-185X
pISSN - 1756-1841
DOI - 10.1111/1756-185x.13283
Subject(s) - polyarteritis nodosa , medicine , hypogammaglobulinemia , phenotype , rash , disease , pathogenesis , inflammation , systemic inflammation , dermatology , immunology , vasculitis , gene , pathology , genetics , biology , antibody
Deficiency of ADA 2 ( DADA 2) is a recently described systemic inflammatory vasculopathy caused by mutations in the CERC 1 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 DADA 2 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 DADA 2, and raise awareness among rheumatologists to consider DADA 2 when evaluating patients presenting with PAN ‐like disease.