title: Deficiency of interleukin-1 receptor antagonist responsive to anakinra.
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.
authors.affiliation: Division 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.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Schnellbacher
authors.forename: Giovanna
authors.initials: G
authors.lastname: Ciocca
authors.forename: Roxanna
authors.initials: R
authors.lastname: Menendez
authors.forename: Ivona
authors.initials: I
authors.lastname: Aksentijevich
authors.forename: Raphaela
authors.initials: R
authors.lastname: Goldbach-Mansky
authors.forename: Ana M
authors.initials: AM
authors.lastname: Duarte
authors.forename: Rafael
authors.initials: R
authors.lastname: Rivas-Chacon
mesh_terms: D018501:Antirheumatic Agents / Q000627:therapeutic use; D005260:Female; D056660:Hereditary Autoinflammatory Diseases / Q000150:complications / Q000188:drug therapy*; D006801:Humans; D007223:Infant; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D010019:Osteomyelitis / Q000188:drug therapy* / Q000209:etiology; D010522:Periostitis / Q000188:drug therapy* / Q000209:etiology; D012872:Skin Diseases, Vesiculobullous / Q000188:drug therapy* / Q000209:etiology
chemical_list: D018501:Antirheumatic Agents; D053590:Interleukin 1 Receptor Antagonist Protein