Anakinra therapy for CINCA syndrome with a novel mutation in exon 4 of the CIAS1 gene

Acta Paediatr. 2006 Feb;95(2):246-9. doi: 10.1080/08035250500341451.

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.

Conclusion: Following the diagnosis of CINCA syndrome, anakinra treatment should be commenced as the first line of therapy.

Publication types

  • Case Reports

MeSH terms

  • Antirheumatic Agents / administration & dosage
  • Antirheumatic Agents / therapeutic use*
  • Carrier Proteins / genetics*
  • Central Nervous System Diseases* / complications
  • Central Nervous System Diseases* / drug therapy
  • Central Nervous System Diseases* / genetics
  • Enzyme-Linked Immunosorbent Assay
  • Exons / genetics*
  • Female
  • Fever* / complications
  • Fever* / drug therapy
  • Fever* / genetics
  • Humans
  • Infant, Newborn
  • Inflammation* / complications
  • Inflammation* / drug therapy
  • Inflammation* / genetics
  • Injections, Subcutaneous
  • Interleukin 1 Receptor Antagonist Protein
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Point Mutation / genetics*
  • Sialoglycoproteins / administration & dosage
  • Sialoglycoproteins / therapeutic use*
  • Syndrome
  • Urticaria* / complications
  • Urticaria* / drug therapy
  • Urticaria* / genetics

Substances

  • Antirheumatic Agents
  • Carrier Proteins
  • IL1RN protein, human
  • Interleukin 1 Receptor Antagonist Protein
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Sialoglycoproteins