Table S2.

Phenotypes associated with the p.Arg918Gln mutation of NLRP3 in family LMG446

Subject	2261	2262	2264	2265
Age at ascertainment, y	35	13	10	6
Sex	M	M	F	M
Sensorineural hearing loss	+	+	+*	—
Abnormal MRI-FLAIR precontrast signal†	+	+	+*	+
Abnormal MRI-FLAIR postcontrast enhancementa	+	+	—	—
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)	4.50	0.20	<0.15	<0.15
Fibrinogen (177–466 mg/dL)	324	297	222	248
ESR (0.0–42.0 mm/h)	6.0	8.0	3.0	10.0
Abnormal PBMC secretion of IL-1β	N	+	+	+

N, evaluation not done or results not available.

^*Right ear only.

^†Temporal bone imaging.

^‡Left knee arthritis, left shoulder bursitis, multiarticular arthralgias.

^§Multiarticular arthralgias.

^¶Right knee arthritis.

^#Subject had nonmigraine and migraine headaches.

^||Autism spectrum disorder (Asperger syndrome).

^**Febrile seizures, “Alice in Wonderland” syndrome.

^††Febrile seizures, Chiari I malformation.