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

Journal of Postgraduate Medicine
M C AbdullaS Mohammed

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.

Citations

May 7, 2019·Frontiers in Immunology·Šárka FingerhutováPavla Doležalová
Dec 2, 2015·International Journal of Rheumatic Diseases·Mansoor C AbdullaDorota Rowczenio
Dec 21, 2019·International Journal of Rheumatic Diseases·Ayush GuptaNarendra Kumar Bagri
May 18, 2021·Indian Journal of Nephrology·G K PrakashH S Ballal

❮ Previous
Next ❯

Methods Mentioned

BETA
ESR
biopsy
electrophoretic
targeted mutation

Software Mentioned

Sequencing Analysis

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.

Related Papers

Anais Brasileiros De Dermatologia
Ana Francisca Junqueira Ribeiro PereiraLeandro Augusto Tanure
Arthritis and Rheumatism
Jasmin B Kuemmerle-DeschnerSusanne M Benseler
International Journal of Dermatology
Mohammad A El-DaroutiMona R E Abdel-Halim
© 2021 Meta ULC. All rights reserved