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 CASE SERIES
Year : 2015  |  Volume : 61  |  Issue : 2  |  Page : 120-122

Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation


1 Department of General Medicine, MES Medical College, Kerala, India
2 Department of Medicine, National Amyloidosis Centre, UCL Medical School, Royal Free Hospital, London, United Kingdom

Correspondence Address:
M C Abdulla
Department of General Medicine, MES Medical College, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0022-3859.153107

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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.






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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow