A case of Muckle–Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin)

Abstract

Here, we report a case of Muckle–Wells syndrome (MWS) caused by a novel mutation in the CIAS1/NALP3 gene. A 23-year-old woman had recurrent self-limited inflammatory episodes from childhood, with headache, abdominal pain, arthritis, and urticarial rash, associated with profound sensorineural hearing loss. The diagnosis was established on the basis of a typical clinical picture together with a missense mutation, which replaced an amino acid adjacent to one in an earlier reported case of MWS resembling this one.

Key words:

• Autoinflammatory syndromes
• Cryopyrin-associated periodic syndromes
• Muckle–Wells syndrome
• NALP3
• Sensorineural deafness