A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra

Pediatr Nephrol. 2007 Sep;22(9):1391-4. doi: 10.1007/s00467-007-0500-8. Epub 2007 May 8.

Abstract

Muckle-Wells syndrome (MWS) is a subset of autoinflammatory diseases. It is characterized by recurrent inflammatory crises associated with fever, abdominal pain, persistent urticaria, arthralgia, sensorineural deafness, and possible development of multiorgan amyloid A protein (AA)-type amyloidosis. Mutations in the CIAS1 gene have been reported in MWS. Interleukin 1B (IL-1B) probably plays a major role in the pathophysiology of the disease, and IL-1B blockade may be therapeutic for this syndrome. We report here a Turkish child with MWS treated with anakinra. A novel mutation (I480F) was identified in exon 3 of the CIAS1 gene in this patient. The resolution of inflammatory symptoms, normalization of serological values, and improvement in hearing was noted with anakinra treatment.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amyloidosis / drug therapy*
  • Amyloidosis / genetics*
  • Autoimmune Diseases / drug therapy*
  • Autoimmune Diseases / genetics*
  • Carrier Proteins / genetics*
  • Humans
  • Inflammation / drug therapy*
  • Inflammation / genetics*
  • Interleukin 1 Receptor Antagonist Protein / therapeutic use*
  • Male
  • Mutation*
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Syndrome

Substances

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