Table 2 Clinical features of all patients with the NLRP3 E311K mutation

Constitutional symptoms

Fatigue

13 (100%)

Recurrent fever

4 (31%)

Organ-specific symptoms

Headache

7 (54%)

Ocular symptoms:

11 (85%)

   ■ Conjunctivitis

10 (77%)

   ■ Uveitis

2 (15%)

   ■ Papillary edema

0

   ■ Opticus neuritis

1 (8%)

Sensorineural hearing loss

12 (92%)

Oral ulcers

6 (46%)

Pericarditis

3 (23%)

Abdominal pain

4 (31%)

Renal disease/proteinuria

10 (77%)

Musculoskeletal symptoms:

11 (85%)

   ■ Arthralgias

11 (85%)

   ■ Arthritis

9 (69%)

   ■ Myalgias

7 (54%)

Skin symptoms:

7 (54%)

   ■ Erythematous rash

7 (54%)

   ■ Cold-induced urticaria

0

MWS Disease Activity Score (MWS-DAS)

Mean MWS-DAS (range)

9.6 (4-14)

mild (< 10)

5 (38%)

severe (≥ 10)

8 (62%)

Global measures of health (patient-derived)

Patient Global Health Score VAS (mean and stdv)

4.77 (2.20)

Patient Mood Score VAS (mean and stdv)

2.08 (0.49)

Patient Performance global score

Global VAS (10 = severe)

(mean and stdv)

5.85 (2.15)

Physician Global Assessment Score VAS

(mean and stdv)

5.85 (1.52)