Fig. 4.

Family LMG446 phenotype. (A) Family LMG446 pedigree showing segregation of the p.Arg918Gln mutation of NLRP3 with hearing loss and signs and symptoms of systemic autoinflammation. (B) MRI of subject 2261 using FLAIR before contrast administration demonstrates increased signal of perilymph due to elevated protein concentration in the basal (long thin arrow) and apical (arrowhead) turns of the cochlea, suggestive of prior inflammation (Left). Short arrow indicates the posterior semicircular canal. There was enhanced postcontrast signal in the basal and apical turns of the cochlea representing accumulation of contrast from inflammation (Right). (Scale bar, 1 cm.) (C) Urticaria shown on subjects 2261 and 2262 and on the right cheek of subject 2264. An oral ulcer (black arrow) is shown on the left tonsillar pillar of subject 2262.