Neonatal-onset multisystem inflammatory disease

Neonatal-onset multisystem inflammatory disease, abbreviated NOMID, is the most severe form of the cryopyrin-associated periodic syndromes, a spectrum of rare autoinflammatory conditions that share one genetic cause. The signs are usually present from birth and persist throughout life. Affected people have a skin rash and fever, and may also have joint inflammation, swelling and contractures that restrict movement. Chronic meningitis, which is inflammation of the tissue covering the brain and spinal cord, commonly brings headaches, seizures and cognitive impairment. Other features include eye problems, short stature, distinctive facial features and kidney damage from amyloidosis. The condition arises from variants in the NLRP3 gene, which makes the protein cryopyrin and leads to an overactive inflammatory response. It is usually inherited in an autosomal dominant pattern, although some cases follow new variants. Together the syndromes are estimated to affect 2 to 5 per million people.