title: Good response to IL-1beta blockade by anakinra in a 23-year-old CINCA/NOMID patient without mutations in the CIAS1 gene. Cytokine profiles and functional studies.
abstract: Chronic infantile neurological cutaneous and articular (CINCA) syndrome is an autoinflammatory disease, defined by the triad of urticarial rash, neurological manifestations, and arthropathy, accompanied by recurrent fevers and systemic inflammation. Increasing neurological deficits result from aseptic meningitis. Sensorineural hearing loss and progressive loss of vision caused by keratoconjunctivitis or papilloedema may emerge. An autosomal-dominant inheritance is suspected although sporadic cases are reported frequently. Sixty per cent of CINCA patients carry mutations in the cold-induced autoinflammatory syndrome (CIAS1) gene. We report the favourable response of a 23-year-old CINCA patient without CIAS1 mutations to treatment with the recombinant interleukin-1 (IL-1) receptor antagonist anakinra.
authors.affiliation: Department of Paediatric Rheumatology and Immunology, University Children's Hospital Dresden, 01307 Dresden, Germany. christian.hedrich@uniklinikum-dresden.de
authors.forename: C M
authors.initials: CM
authors.lastname: Hedrich
authors.forename: B
authors.initials: B
authors.lastname: Fiebig
authors.forename: S
authors.initials: S
authors.lastname: Sallmann
authors.forename: N
authors.initials: N
authors.lastname: Bruck
authors.forename: G
authors.initials: G
authors.lastname: Hahn
authors.forename: J
authors.initials: J
authors.lastname: Roesler
authors.forename: A
authors.initials: A
authors.lastname: Roesen-Wolff
authors.forename: G
authors.initials: G
authors.lastname: Heubner
authors.forename: M
authors.initials: M
authors.lastname: Gahr
mesh_terms: D000328:Adult; D018501:Antirheumatic Agents / Q000627:therapeutic use; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D053583:Interleukin-1beta / Q000037:antagonists & inhibitors*; D009154:Mutation / Q000235:genetics*; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D009422:Nervous System Diseases / Q000188:drug therapy* / Q000235:genetics; D012216:Rheumatic Diseases / Q000188:drug therapy* / Q000235:genetics; D013577:Syndrome; D014581:Urticaria / Q000188:drug therapy* / Q000235:genetics
chemical_list: D018501:Antirheumatic Agents; D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D053583:Interleukin-1beta; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human