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Neonatal onset multisystem inflammatory disease (NOMID) is an inflammatory disorder present from birth (congenital) characterized by tissue damage of the nervous system, skin, and joints. Individuals with NOMID have a skin rash that is present from birth and persists throughout life. Other symptoms may include: headaches, seizures, and vomiting resulting from chronic meningitis (inflammation of the tissue that covers and protects the brain and spinal cord); intellectual disability; episodes of mild fever; and hearing and vision problems. NOMID is the most severe form of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the NLRP3 ( CIAS1 ) gene. About 50% of affected individuals with NOMID are found to have mutations in this gene. This condition is inherited in an autosomal dominant manner. Treatment may include the use of medications to suppress the process of inflammation, such as anti- inflammatories, corticosteroids, and interleukin-1 beta receptors.
Source: GARD Last updated on 05-01-20
The symptoms of neonatal onset multisystem inflammatory disease (NOMID) start at birth, or are observed within the first weeks of life. The first symptoms are usually a skin rash and fever. Individuals with NOMID may also have chronic meningitis (inflammation of the membranes surrounding the brain), which may lead to headaches, seizures, and vomiting. Hearing loss, vision loss, and intellectual disability, may also occur.
People with NOMID often experience joint inflammation, swelling, and cartilage overgrowth, causing characteristic prominent knees and other skeletal abnormalities that worsen over time. Joint deformities called contractures may restrict the movement of certain joints.
Other features of this disorder include short stature with shortening of the lower legs and forearms, and characteristic facial features, including a prominent forehead and protruding eyes. There is an increased risk for individuals with NOMID to develop abnormal deposits of a protein called amyloid (amyloidosis), which may cause kidney damage.
Last updated on 05-01-20
Neonatal onset multisystem inflammatory disease (NOMID) is a genetic disease, often caused by mutations in the NLRP3 (_also known as _CIAS1) gene. In almost all cases, NOMID results from new mutations within this gene. These cases occur in people with no history of the disorder in their family (de novo). A few cases have been reported in which an affected person has inherited the mutation from one affected parent. In these instances, the disorder is inherited in an autosomal dominant manner.
The NLRP3 gene provides instructions for making a protein called cryopyrin. Cryopyrin is found mainly in white blood cells and in cartilage-forming cells (chondrocytes) and plays a role in the immune system, helping to start and regulate the immune system response. It is suspected that mutations within the NLRP3 gene cause cryopyrin to be overactive, leading to an inappropriate inflammatory response that results the symptoms of in NOMID.
A genetic mutation in the NLRP3 gene is not found in about 50% of individuals with NOMID.
Last updated on 05-01-20
Leigh D Church, Sinisa Savic, and Michael F McDermott; Long term management of patients with cryopyrin-associated periodic syndromes (CAPS): focus on rilonacept (IL-1 Trap), Biologics. 2008 December; 2(4): 733–742.
Last updated on 04-27-20
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