Table 1.

Demographic characteristics and A439V NLRP3 mutation status in a family with FCAS/MWS-overlap syndrome. Values are n (%) unless otherwise specified.

CharacteristicsValues
No. family members37
  Male:female, n16:21
  Sex ratio, n1:1.3
  Ethnicity: white37 (100)
Family members with MWS-associated symptoms29 (78)
Family members with confirmed NLRP3 mutation15 (41)
  Male:female, n9:6
  Sex ratio, n1:0.7
  Age at MWS diagnosis, mean (range)42 (12–75)
  Symptomatic family members with the A439V mutation15/15 (100)
Family members without confirmed NLRP3 mutation22 (59)
  Male:female, n7:15
  Sex ratio, n1:2
  Age at MWS diagnosis, mean (range)35 (6–70)
  Symptomatic family members14/22 (64)
  • FCAS: familial cold autoinflammatory syndrome; MWS: Muckle-Wells syndrome.