Table 1 Demographic characteristics and NLRP3 gene mutation status in an extended family with Muckle-Wells syndrome
Extended family | |
|---|---|
Family members screened | Number = 42 (100%) |
Male:female | 17:25 |
Gender ratio | 1:1.5 |
Family members with MWS-associated symptoms | |
Symptomatic family members | 13/42 (31%) |
Family members with confirmed NLRP3 mutation | |
Heterozygous carriers | 13/42 (31%) |
Male:female | 5:8 |
Gender ratio | 1:1.6 |
Age at MWS diagnosis (mean and range) | 37.8 years (3.3 - 72.4) |
Symptomatic family members with the E311K mutation | 13/13 (100%) |