Human Andrea, Pagnoux Christian
Division of Rheumatology, Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia, Canada.
Vasculitis Clinic, Mount Sinai Hospital, Toronto, Ontario, Canada.
Int J Rheum Dis. 2019 Jan;22 Suppl 1:69-77. doi: 10.1111/1756-185X.13283. Epub 2018 Apr 6.
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.
腺苷脱氨酶2缺乏症（DADA2）是一种最近被描述的系统性炎症性血管病，由CERC1基因突变引起，其临床表现通常（但并非总是）类似于结节性多动脉炎（PAN）。该病最初的特征为类脂质性皮疹、全身炎症、可变的低丙种球蛋白血症和早发性中风。其表型谱已扩大，包括免疫缺陷综合征和骨髓功能障碍患者，而这些并非PAN的典型特征。对DADA2发病机制和治疗方案的探索增进了我们对该病的理解，但仍需要更多研究。本文旨在综述DADA2的各种临床表型，并提高风湿病学家在评估表现为类PAN疾病的患者时考虑DADA2的意识。
