title: Muckle-Wells treatment with anakinra.
abstract: A 35-year-old man initially was referred for management of recalcitrant urticaria. Owing to his long history of arthritis and sensorineural hearing loss, genetic testing was performed. The test showed a D305N heterozygous mutation in the NLRP3 gene, which is consistent with the diagnosis of Muckle-Wells syndrome. We discussed the rationales behind the use of the interleukin-1 antagonist anakinra in this autoinflammatory disorder.
authors.affiliation: New York University School of Medicine.
authors.forename: John
authors.initials: J
authors.lastname: Eungdamrong
authors.forename: Kevin P
authors.initials: KP
authors.lastname: Boyd
authors.forename: Shane A
authors.initials: SA
authors.lastname: Meehan
authors.forename: Jo-Ann
authors.initials: JA
authors.lastname: Latkowski
mesh_terms: D000328:Adult; D018501:Antirheumatic Agents / Q000627:therapeutic use*; D002352:Carrier Proteins / Q000235:genetics; D056587:Cryopyrin-Associated Periodic Syndromes / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000188:drug therapy* / Q000235:genetics; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D008297:Male; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D014581:Urticaria / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology
chemical_list: D018501:Antirheumatic Agents; D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human