Neonatal Onset Multisystem Inflammatory disease

What causes neonatal onset multisystem inflammatory disease (NOMID)?

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

Selected Full-Text Journal Articles

Cryopyrin-Associated Periodic Syndromes_ full text article

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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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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