title: A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra.
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.
authors.affiliation: Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey.
authors.forename: Buket
authors.initials: B
authors.lastname: Dalgic
authors.forename: Odul
authors.initials: O
authors.lastname: Egritas
authors.forename: Sinan
authors.initials: S
authors.lastname: Sari
authors.forename: Laurence
authors.initials: L
authors.lastname: Cuisset
mesh_terms: D000293:Adolescent; D000686:Amyloidosis / Q000188:drug therapy* / Q000235:genetics*; D001327:Autoimmune Diseases / Q000188:drug therapy* / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D006801:Humans; D007249:Inflammation / Q000188:drug therapy* / Q000235:genetics*; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human