Search results
Results from the WOW.Com Content Network
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 ...
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.
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 are a group of inherited disorders characterized by bouts of inflammatory skin lesions and periodic fevers. [29] [30] Blau syndrome Blau syndrome; Chronic infantile neurologic cutaneous and articular syndrome; Familial cold urticaria (familial cold autoinflammatory syndrome) Familial Mediterranean fever; Hyper-IgD ...
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.
Muckle–Wells syndrome; Familial cold autoinflammatory syndrome, types 1, 2, 3, and 4; Neonatal onset multisystem inflammatory disease; NLRP1 deficiency; PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, acne) ADAM17 deficiency; Blau syndrome; Majeed syndrome (Chronic recurrent multifocal osteomyelitis and congenital ...