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

Area of Science:

• Genetics
• Immunology
• Rheumatology

Background:

• Muckle-Wells syndrome (MWS) is a rare autosomal dominant autoinflammatory disorder.
• It is part of the cryopyrin-associated periodic syndrome (CAPS) spectrum, typically seen in Caucasian individuals.
• MWS presents with recurrent fevers, urticaria, arthralgia, myalgia, and conjunctivitis, with potential for hearing loss and amyloidosis.

Observation:

• This study reports two MWS patients within an Indian family.
• The patients were found to have the p.D303N mutation in the NLRP3 gene.
• This is a rare description of CAPS in a non-Caucasian cohort.

Findings:

• The p.D303N mutation in the NLRP3 gene is confirmed as the cause of MWS in this Indian family.
• This finding expands the known genetic basis and ethnic representation of MWS.
• The clinical presentation aligns with previously described MWS cases.

Implications:

• Increases awareness of MWS and other hereditary periodic fever syndromes in the Indian population.
• Highlights the importance of genetic testing for recurrent fevers in diverse ethnic groups.
• Suggests potential for earlier diagnosis and management of MWS in South Asia.