Table 1.
Clinical features of the patients with the p.E313K mutation in NLRP3.
| Clinical symptoms | I2 (80)∗ |
II1 (56)∗ |
II3 (55)∗ |
II5 (59)∗ |
II7 (53)∗ |
III1 (27)∗ |
III2 (31)∗ |
III3 (19)∗ |
III4 (27)∗ |
% in the current study | % in the referenced study [9] |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chronic fatigue | — | — | — | — | — | — | — | — | — | 0 | 100 |
| Recurrent fever | — | — | — | — | — | — | — | — | — | 0 | 31 |
| Headache | — | — | — | — | — | — | — | — | — | 0 | 54 |
| Ocular symptoms | |||||||||||
| Conjunctivitis | — | Y | — | — | Y | Y | — | — | Y | 44 | 85 |
| Uveitis | — | Y | — | — | Y | Y | — | — | Y | 44 | 77 |
| Papillary edema | — | — | — | — | — | — | — | — | — | 0 | 15 |
| Hearing loss | Y | Y | Y | Y | Y | Y | Y | Y | Y | 100 | 92 |
| Oral ulcers | — | Y | Y | — | — | — | Y | — | — | 33 | 46 |
| Pericarditis | — | — | — | — | — | — | — | — | — | 0 | 23 |
| Abdominal pain | — | — | — | — | — | — | — | — | — | 0 | 31 |
| Renal amyloidosis | — | — | — | — | — | — | — | — | — | 0 | 77 |
| Musculoskeletal symptoms | |||||||||||
| Arthralgias | — | — | Y | — | — | — | — | — | — | 11 | 85 |
| Arthritis | — | — | Y | — | — | — | — | — | — | 11 | 69 |
| Myalgias | — | — | — | — | — | — | — | — | — | 0 | 54 |
| Skin symptoms | |||||||||||
| Erythematous rash | — | — | — | — | Y | — | — | — | Y | 18 | 54 |
∗Age (years) when tested.