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Deficiency of interleukin-1 receptor antagonist responsive to anakinra
Charlotte Schnellbacher1, Giovanna Ciocca, Roxanna Menendez
1Division of Pediatrics, Miami Children's Hospital, Miami, FloridaDivision of Dermatology, Miami Children's Hospital, Miami, FloridaDivision of Dermatology, Columbia Hospital/Nova Southeastern University, West Palm Beach, FloridaNational Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MarylandDivision of Rheumatology, Miami Children's Hospital, Miami, Florida.
Abstract:
We describe a 3-month-old infant who presented to our institution with interleukin (IL)-1 receptor antagonist deficiency (DIRA), which consists of neutrophilic pustular dermatosis, periostitis, aseptic multifocal osteomyelitis, and persistently high acute-phase reactants. Skin findings promptly improved upon initiation of treatment with anakinra (recombinant human IL-1 receptor antagonist), and the bony lesions and systemic inflammation resolved with continued therapy.
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