Familial cold autoinflammatory syndrome 2
Familial cold autoinflammatory syndrome 2
Definition
An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.
Also known as familial cold autoinflammatory syndrome 2, familial cold autoinflammatory syndrome caused by mutation in NLRP12, familial cold autoinflammatory syndrome type 2, FCAS2, NALP12-associated hereditary periodic fever syndrome, NAPS12, NLRP12 familial cold autoinflammatory syndrome, NLRP12-associated hereditary periodic fever syndrome — per MONDO