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| NLRP12 Associated Autoinflammatory Disorders (NLRP12AD), a newly found cause for some forms of Familial Cold Autoinflammatory Syndrome (FCAS) | |
NLRP12 mutations have been found to be a cause of Familial Cold Autoinflammatory Syndrome (FCAS) in a small number of patients. Most patients with FCAS have a mutation in the NLRP3 (CIAS1) gene.
NLRP12 mutations affect the making of the protein monarch-1. Monarch-1 helps to inhibit the inflammatory response. Mutations in the NLRP12 gene affect the ability of the monarch-1 protein to prevent inflammation.
Mutations to the NLRP3 (CIAS1) gene that causes FCAS in most patients affects the cryopyrin protein, and makes it over-produce Interleukin-1.
Either of these mutations can affect the body's ability to control inflammation in the body, and are triggered by exposure to cold or cooling temperatures.
Patients with NLRP12 gene mutations develop skin rashes, fevers, and joint pains that are similar to what is seen in patients with FCAS.
These articles were used for reference:
http://ghr.nlm.nih.gov/gene/NLRP12
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3112487/
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