Deficiency of Interleukin-1 Receptor Antagonist: A Case withLate Onset Severe Inflammatory Arthritis, Nail Psoriasis withOnychomycosis and Well Responsive to Adalimumab Therapy

DIRA (deficiency of the IL-1Ra) is a rare condition that usually presents in the neonatal period. Patients with DIRA present withsystemic inflammation, respiratory distress, joint swelling, pustular rash, multifocal osteomyelitis, and periostitis. Previously, wereported a patient with a novel mutation inIL1RNwith a healthy neonatal period, a late-onset of pustular dermatosis, inflammatoryarthritis, and excellent response to canakinumab treatment. Herein, we are presenting a new case of late-onset DIRA syndrome,carrying a different mutation and showing different clinical findings. This patient is the first one in the literature with theinflammatory arthritis, nail psoriasis, and onychomycosis and with her remarkable response to monoclonal antibodies. The caseresponded well and fully recovered after treatment with adalimumab, but not with canakinumab. The DIRA disease can lead todeath from multiple organ failures and if recognized early, the treatment with replacement of the deficient protein with biologicagents induces rapid and complete remission. Therefore, clinical symptoms should be learned exactly by the pediatricians, pediatricrheumatologists, and immunologists; and molecular analysis targeting this defect must be performed as early as possible