Table 1.

Features of patients with CAPS analyzed for NLRP3 mosaicism. All patients are characterized by increment of inflammatory markers at clinical diagnosis. No patients showed AA amyloidosis.

Patient No.	1	2	3	4	5	6	7	8	9	10	11	12	13	14
Sex	F	M	F	M	F	F	F	M	M	F	M	M	M	F
Phenotype	MWS	CINCA	MWS	FCAS	MWS	CINCA	CINCA	MWS	FCAS	MWS	MWS^*	MWS	MWS	MWS
Birth yr	2007	1971	2001	1998	2000	1995	1985	2001	1973	1982	1986	2001	1996	1976
Age at onset	2 mos	2 mos	10 mos	2 yrs	11 yrs	3 mos	birth	10.5 yrs	< 1 yr	2 yrs	2 yrs	5 yrs	3 yrs	5 yrs
Age at referral	18 mos	30 yrs	5 yrs	12 yrs	12 yrs	15 mos	8 yrs	12 yrs	37 yrs	31 yrs	25 yrs	8 yrs	17 yrs	34 yrs
Fever	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Urticaria-like rash	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	—	Yes	Yes	—
Arthritis	—	Yes	Yes	Arthralgias	Yes	Yes	Yes	Yes	—	Yes	—	Yes	Yes	Yes
Typical facies	—	Yes	Yes	—	—	—	—	—	—	—	—	—	—	—
Headache	—	Yes	—	—	—	Yes	Yes	—	—	—	—	—	—	—
Mental retardation	—	Yes	—	—	—	—	—	—	—	—	—	—	—	—
Aseptic meningitis	—	Yes	—	—	—	—	—	—	—	—	—	—	—	—
Papilloedema	—	Yes	—	—	—	—	Yes	—	—	—	—	—	—	—
Hearing loss	—	Yes	—	—	—	—	Yes	—	Yes^§	Yes	—	—	—	—
Bone dysplasia	—	Yes	—	—	—	Yes	Yes	—	—	—	—	—	—	—
Growth delay	—	Yes	—	Yes	Yes	—	Yes	—	—	—	—	—	—	—
Uveitis/conjunctivitis	—	Yes	—	—	Yes	—	—	—	—	Yes	—	—	—	—
Trigger by cold	—	—	—	Yes	—	—	—	—	Yes	—	Yes	—	—	Yes
Anti-IL-1 treatment	Yes	Yes	Yes	—	Yes	Yes	Yes	Yes	—	Yes	—	Yes	Yes	Yes

↵§ Mild (audiometry).
↵* Mild phenotype. CAPS: cryopyrin-associated periodic syndrome; MWS: Muckle-Wells syndrome; CINCA: chronic infantile neurological cutaneous and articular syndrome; FCAS: familial cold autoinflammatory syndrome; IL: interleukin.