From the Mediterranean to the Sea of Japan: The Transcontinental Odyssey of Autoinflammatory Diseases

Table 4

The clinical features of NLRP-related diseases.

	Familial cold autoinflammatory syndrome	Muckle-Wells syndrome	Neonatal onset multisystem inflammatory disorder	NLRP12-associated autoinflammatory disorder (or familial cold autoinflammatory syndrome 2)
Gene	NLRP3 (1q44)			NLRP12 (19q13.42)
Inheritance	Autosomal dominant
Protein encoded	Cryopyrin			Monarch 1
OMIM	120100	191900	607115	609648
Onset age	Infancy	Infancy-adolescence	Prenatal period	Infancy
Duration of clinical signs	Less than 24 hours	Subcontinuous	Continuous	Periodic
Fever	Short duration	Recurrent	Recurrent	Periodic
Rash features	Cold-induced, urticaria-like	Cold-induced, urticaria-like, and evanescent	Migratory, polymorphous, and urticaria-like	Cold-induced, urticaria-like
Ocular signs	Conjunctivitis	Conjunctivitis	Chronic papilledema, optic nerve atrophy, and visual loss	—
Muscular-skeletal symptoms	Arthralgia, transient joint stiffness	Lifelong arthralgias, nonerosive arthritides, and chronic fatigue	Deforming osteoarthropathy of large joints (with abnormal ossification of patellae)	Arthralgia
Neurologic signs	—	Risk of sensorineural deafness	Chronic aseptic meningitis, sensorineural deafness	Headache, sensorineural deafness
Major complication	Amyloidosis of AA type
Treatment	Interleukin-1 antagonists (canakinumab)			Interleukin-1 antagonists