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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).
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.
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.
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 diseases (AIDs) are a group of rare disorders caused by dysfunction of the innate immune system. These responses are characterized by periodic or chronic systemic inflammation , usually without the involvement of adaptive immunity.
XLP syndrome X-linked lymphoproliferative syndrome (see Duncan Disease) XLSA X-linked sideroblastic anemia: XMEA X-linked myopathy with excessive autophagy: XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XP Xeroderma pigmentosa: XSCID X-linked severe combined immunodeficiency: XXX syndrome ...
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 .