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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 ...
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]
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.
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.
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 .
Periodic fever syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation.Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of the adaptive immune system, people with autoinflammatory diseases do not produce autoantibodies or antigen-specific T or B cells.
Cerebro-oculo-facio-skeletal syndrome: COLD Chronic obstructive lung disease: COPD Chronic obstructive pulmonary disease: COVID-19 Coronavirus disease 2019: CP Cerebral palsy: CP/CPPS: Chronic prostatitis/chronic pelvic pain syndrome: CPDD Calcium pyrophosphate deposition disease: CPM Central pontine myelinolysis: CPPS Chronic pelvic pain ...
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 ...