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Familial cold urticaria (also properly known as familial cold autoinflammatory syndrome, FCAS) is an autosomal dominant condition characterized by rash, conjunctivitis, fever/chills and arthralgias [4] elicited by exposure to cold – sometimes temperatures below 22 °C (72 °F). [3] [5]
It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome (FCAS, formerly termed familial cold-induced urticaria), the Muckle–Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID, also called chronic infantile neurologic cutaneous and ...
PLAID syndrome is an inherited condition characterised by antibody deficiency and immune dysregulation, first described in 2012. The name is an acronym of "PLCG2-associated antibody deficiency and immune dysregulation". It is characterised by cold-induced urticaria, autoimmunity, atopy and humoral immune deficiency. [1]
Autoinflammatory syndromes This page was last edited on 5 February 2014, at 19:48 (UTC) . Text is available under the Creative Commons Attribution-ShareAlike 4.0 License ; additional terms may apply.
Instead, the autoinflammatory diseases are characterized by errors in the innate immune system. [1] The syndromes are diverse, but tend to cause episodes of fever, joint pains, skin rashes, abdominal pains and may lead to chronic complications such as amyloidosis. [2] Most autoinflammatory diseases are genetic and present during childhood. [3]
Autoinflammatory syndromes are a group of inherited disorders characterized by innate immune system dysregulation often manifesting with bouts of inflammatory skin lesions and periodic fevers The main article for this category is Periodic fever syndrome .
The disease is caused in 60% of cases by a mutated gene called CIAS1 that is known to be involved in other syndromes that appear somewhat similar, such as Muckle–Wells syndrome and familial cold urticaria. In many patients, the parents do not have the same mutation, indicating the problem was not inherited, even though it is a genetic disease.
As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin . MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease —in fact, all three are related to mutations in the same gene and ...