NOMID


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NOMID

An extremely rare (100 cases in the world literature) condition characterised by an early onset of persistent multisystem (CNS, skin, joints) inflammation and recurrent fever.

Clinical findings
• Meningeal irritation—headaches, seizures, vomiting.
• Hearing and vision loss due to nerve damage and inflammation.
• Persistent rash—typically of neonatal onset.
• Joint inflammation, swelling, cartilaginous overgrowth (resulting in characteristically prominent knees), joint contractures.
• Other findings include short stature with short lower legs and forearms, characteristic facies (prominent forehead, protruding eyes), and amyloidosis leading to kidney damage.

Molecular pathology
Caused by missense mutations in the nucleotide-binding site of NLRP3, which encodes cryopyrin, a protein involved in regulating inflammation and apoptosis.
References in periodicals archive ?
Treatment of Neonatal-Onset Multisystem Inflammatory Disease (NOMID) About Sobi
Bunlar; Ailesel soguk otoinflamatuar sendrom (FCAS), Muckle-Wells sendromu (MWS), Neonatal bas-langicli multisistem inflamatuar hastalik (NOMID)/Kronik norolojikkutanoz-artropatik sendrom (CINCA)dur.
NOMID affects numerous organs and body systems, including the skin, joints, eyes, and central nervous system.
IL-1 is overproduced in NOMID and a number of other diseases, leading to damaging inflammation.
Previous work by the same National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), part of the National Institutes of Health, scientists showed that blocking IL-1 was effective in relieving symptoms of NOMID.
For example, inflammation of the cochlea - a tiny structure of the inner ear - was found to be responsible for hearing loss in people with NOMID.
NOMID, also known as chronic infantile neurologic cutaneous articular (CINCA) syndrome, is an inflammatory disorder that affects numerous organs and body systems, including the skin, joints, eyes and central nervous system.
As many as 20% of children with NOMID do not survive to adulthood.
While the mechanism of NOMID is not completely understood, research in recent years has revealed mutations in a gene called CIAS1 in about 60% of patients with the disease.
Until the new NIAMS study, however, the agent had not been systematically assessed in a larger group of patients with NOMID, and its effect on the most devastating organ manifestations--including the central nervous system, the eyes and the ears--had not been investigated, notes Dr.
More recently, 7 pediatric patients (5 children with MWS and 2 adolescents with NOMID) were enrolled in a phase II open-label study: all patients achieved a complete clinical and laboratory response within seven days after the first dose of canakinumab, 2 mg/kg or 150 mg s.c, and responses were reinduced upon retreatment following relapse [104].