Table 1.

Main clinical symptoms and organ involvement of NLRP3-associated autoinflammatory diseases.

	FCAS	MWS	CINCA/NOMID	DFN34	KFH
Attack pattern	Recurrent Lasting <24 hours Precipitated by cold exposure	Recurrent Lasting 1 to 3 days	Recurrent-to-continuous 1-to-3 flares per day	Sub-clinical Progressive	Recurrent, unilateral Lasting 24-48 hours Improvement with age
Urticaria-like rash (during the attacks)	+	+	+	–	–
Fever/chills/arthralgias (during the attacks)	+	+	+	–	–
Headache (during the attacks)	+	+	+	–	–
Amyloidosis	Rare	+ (late-onset)	–	–	–
Sensorineural hearing loss	Rare	+ (progressive)	Yes	+ (bilateral, progressive)	–
Ocular symptoms	Keratitis- conjunctivitis	Keratitis- conjunctivitis	Anterior Uveitis Visual loss (due to chronic papilledema)	–	Keratitis Photophobia Peri-corneal and peri-conjunctival injection Red and painful eye Blurry vision after the attacks Reduced visual acuity (long-term)
CNS involvement	–	–	Chronic aseptic meningitis Hydrocephalus Papilledema Intellectual disability	–	–
Osteoarticular involvement	–	–	Destructive arthropathy	–	–

FCAS, Familial cold autoinflammatory syndrome; MWS Muckle Wells Syndrome; CINCA/NOMID, chronic infantile neurologic, cutaneous, and articular syndrome/neonatal-onset multisystem inflammatory disease; DFN34, Deafness Autosomal Dominant 34; KFH, Keratitis Fugax Hereditaria; CNS, Central nervous system. The symbol “+” corresponds to the presence of clinical features, while the symbol “-” corresponds to their absence.