Table S1.
Phenotypes associated with the p.Arg918Gln mutation of NLRP3 in family LMG113
| Subject | 1183* | 1194 | 1285 | 1189 | 1236 | 1192 | 1301 | 1191 | 1238 |
| Age at ascertainment, y | 74 | 67 | 45 | 63 | 59 | 42 | 32 | 38 | 32 |
| Sex | F | M | F | F | F | F | M | M | F |
| Sensorineural hearing loss | + | + | + | + | + | + | + | + | — |
| Abnormal MRI-FLAIR precontrast signal† | N | N | N | — | — | N | N | N | — |
| Abnormal MRI-FLAIR postcontrast enhancement* | N | N | N | + | + | N | N | N | — |
| Arthralgia-arthritis | — | — | — | — | + | —‡ | — | — | — |
| Periodic fevers | — | — | — | — | — | — | — | — | — |
| Urticaria | — | — | — | — | — | — | — | — | — |
| Oral ulcers | — | — | — | — | — | — | — | — | — |
| Conjunctivitis | — | — | — | — | — | — | — | — | — |
| Cervical lymphadenopathy | — | — | — | — | — | — | — | — | — |
| Headaches | — | — | — | — | — | — | — | — | — |
| Other neurologic or inflammatory signs or symptoms | — | — | +§ | +¶ | — | — | — | — | +# |
| CRP (0.00–4.99 mg/L) | N | N | N | 3.70 | 7.96|| | N | N | N | 0.70 |
| Fibrinogen (177–466 mg/dL) | N | N | N | 419 | 509|| | N | N | N | 333 |
| ESR (0.0–42.0 mm/h) | N | N | N | 56.0|| | 38.0 | N | N | N | 5.0 |
| Abnormal PBMC secretion of IL-1β | N | N | N | + | + | N | N | N | + |
N, evaluation not done or results not available.
*
Died at 84 y of age.
†
Temporal bone imaging.
‡
Idiopathic self-limited osteoarthritis in third decade of life; bilateral hand arthralgias at 42 y of age.
§
Diagnosed with multiple sclerosis.
¶
Idiopathic episodic edema of lower extremities at 43 y of age.
#
Idiopathic subglottic tracheal stenosis at 25–28 y of age resolved after multiple mechanical dilations.
||
value outside of normal range.