title: Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene.
abstract: We report on a patient with chronic infantile neurological cutaneous and articular (CINCA) syndrome. Sequence analysis revealed a novel missense mutation in exon 4 of the CIAS1 gene. The patient was unresponsive to several treatments including prednisolone, immunosuppressants (azathioprine and cyclosporin), disease-modifying antirheumatic drugs (DMARDs: penicillamine, salazopyrin and methotrexate) and the tumour necrosis factor-alpha (TNF-a)-blocker infliximab. At 32 mo of age, administration of the recombinant human interleukin-1 receptor antagonist anakinra commenced, which caused an immediate and marked improvement in the clinical symptoms and laboratory test results. Continuous inhibition of the inflammation required a dose of 1.0 mg/kg every 12 h.
  
  
  CONCLUSIONS
  Following the diagnosis of CINCA syndrome, anakinra treatment should be commenced as the first line of therapy.
authors.affiliation: Department of Paediatrics, Seirei Hamamatsu General Hospital, Shizuoka, Japan. matr@sis.seirei.or.jp
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsubayashi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Sugiura
authors.forename: Takashi
authors.initials: T
authors.lastname: Arai
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Oh-Ishi
authors.forename: Yasuji
authors.initials: Y
authors.lastname: Inamo
mesh_terms: D018501:Antirheumatic Agents / Q000008:administration & dosage / Q000627:therapeutic use*; D002352:Carrier Proteins / Q000235:genetics*; D002493:Central Nervous System Diseases / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D004797:Enzyme-Linked Immunosorbent Assay; D005091:Exons / Q000235:genetics*; D005260:Female; D005334:Fever / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007249:Inflammation / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D007279:Injections, Subcutaneous; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D017354:Point Mutation / Q000235:genetics*; D012795:Sialoglycoproteins / Q000008:administration & dosage / Q000627:therapeutic use*; D013577:Syndrome; D014581:Urticaria / Q000150:complications / Q000188:drug therapy / Q000235:genetics
chemical_list: D018501:Antirheumatic Agents; D002352:Carrier Proteins; C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D012795:Sialoglycoproteins