title: Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome.
abstract: Familial cold auto-inflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurologic, cutaneous, articular syndrome are related disorders associated with mutations in the CIAS1 gene. They appear to represent a continuum of one disease characterized by IL-1-mediated inflammation. Until recently, these conditions have been difficult to treat; however, with the advent of IL-1-receptor antagonist therapy, many reports of successful treatment of patients with these autoinflammatory diseases have emerged in the past 2 years. We describe an 8-year-old girl, diagnosed with Familial cold auto-inflammatory syndrome, confirmed by presence of a novel CIAS1 mutation, who was refractory to symptomatic treatment. As frequent attacks of urticaria and associated arthralgia had a debilitating effect on the child's lifestyle, a trial of IL-1-receptor antagonist (anakinra) was instituted. Dramatic sustained clinical improvement was evident within days and serum amyloid and C-reactive protein levels normalized within a month. Although several authors have reported successful use of this agent in children with chronic infantile neurologic, cutaneous, articular syndrome, we believe ours is the first report of successful treatment with anakinra in a young child with familial cold auto-inflammatory syndrome.
authors.affiliation: Department of Dermatology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
authors.forename: Susan M
authors.initials: SM
authors.lastname: O'Connell
authors.forename: Grainne M
authors.initials: GM
authors.lastname: O'Regan
authors.forename: Turlough
authors.initials: T
authors.lastname: Bolger
authors.forename: Hal M
authors.initials: HM
authors.lastname: Hoffman
authors.forename: Andrew
authors.initials: A
authors.lastname: Cant
authors.forename: Alan D
authors.initials: AD
authors.lastname: Irvine
authors.forename: Rosemarie M
authors.initials: RM
authors.lastname: Watson
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D001706:Biopsy; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D003080:Cold Temperature / Q000009:adverse effects*; D005260:Female; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use*; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D020125:Mutation, Missense; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D017472:Receptors, Interleukin-1 / Q000037:antagonists & inhibitors*; D013577:Syndrome; D014581:Urticaria / Q000209:etiology / Q000473:pathology
chemical_list: D002352:Carrier Proteins; D007155:Immunologic Factors; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D017472:Receptors, Interleukin-1