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 (VDI). 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 are associated with disease-related damage. Patients with severe DADA2 disease responded favorably to TNFα inhibitors. Conclusion Early age of onset and the periodic nature of the disease warrant prompt initiation of TNFα inhibitor treatment to prevent later complications and severe progression.
Engelstein et al. (Thu,) studied this question.