The Natural History of Deficiency of Adenosine Deaminase 2 Vasculitis in a Large Cohort and Factors Associated With Disease-Related Damage

OBJECTIVE: To describe the clinical and laboratory findings, disease course, and treatment effectiveness of a large, genetically homogenous group of patients with deficiency of adenosine deaminase 2 (DADA2), and to identify factors associated with disease-related damage. METHODS: We conducted a retrospective cohort study that included 45 patients with DADA2 vasculitis with long-term follow-up. Information was collected from patients' charts, including demographic information, clinical presentations, laboratory findings, and treatment. The extent of disease-related damage was determined based on the Vasculitis Damage Index. RESULTS: In this large homogenous cohort, we found that a young age at disease onset and periodic illness that included recurrent episodes of fever, myalgia, and abdominal pain were associated with disease-related damage. Patients with severe DADA2 disease responded favorably to tumor necrosis factor inhibitors (TNFi). CONCLUSION: Early age of onset and the periodic nature of the disease warrant prompt initiation of TNFi treatment to prevent later complications and severe disease progression.