title: Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation.
abstract: Muckle-Wells syndrome (MWS) is a rare autosomal dominant disease that belongs to a group of hereditary periodic fever syndromes. It is part of the wider spectrum of the cryopyrin-associated periodic syndrome (CAPS) which has only rarely been described in non-Caucasian individuals. It is characterized by recurrent self-limiting episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis from childhood. Progressive sensorineural hearing loss and amyloidosis are two late complications. MWS is caused by gain of function mutations in the NLRP3 gene, which encodes cryopyrin, a protein involved in regulating the production of proinflammatory cytokines. We report two patients with MWS in an Indian family associated with the p.D303N mutation in the NLRP3 gene. These findings promote awareness of these hereditary periodic fever syndromes as a cause for recurrent fevers from childhood in the Indian population.
authors.affiliation: Department of General Medicine, MES Medical College, Kerala, India.
authors.forename: M C
authors.initials: MC
authors.lastname: Abdulla
authors.forename: J
authors.initials: J
authors.lastname: Alungal
authors.forename: P N
authors.initials: PN
authors.lastname: Hawkins
authors.forename: S
authors.initials: S
authors.lastname: Mohammed
mesh_terms: D000293:Adolescent; D000328:Adult; D054458:Amplified Fragment Length Polymorphism Analysis; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis / Q000235:genetics*; D005334:Fever / Q000209:etiology; D006801:Humans; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010375:Pedigree; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human