Autoinflammatory diseases.
Autoinflammatory diseases (AIDs) are illnesses caused by primary dysfunction of the innate immune system. Proteins that are mutated in AIDs mediate the regulation of NFkappaB activation, cell apoptosis, and IL-1beta secretion through cross-regulated and sometimes common signaling pathways. AIDs include a broad number of monogenic [e.g., familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), mevalonate kinase deficiency (MKD), tumor necrosis factor (TNF)-receptor-associated periodic syndrome (TRAPS)] and multifactorial (e.g., Behçet's syndrome) disorders. These conditions are characterized by recurrent attacks of fever, abdominal pain, arthritis, and cutaneous signs; these symptoms sometimes overlap, obscuring diagnosis. Distinguishing signs and the use of specific functional tests where available (e.g., in MKD) are helpful. However, some patients remain hard to manage despite the advent of new genetic tests and/or due to lack of effective treatment.
Touitou
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CHU Montpellier, Unité médicale des maladies autoinflammatoires, Hôpital A de Villeneuve, Montpellier, France. isabelle.touitou@igh.cnrs.fr
Koné-Paut
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D001327:Autoimmune Diseases / Q000209:etiology / Q000378:metabolism / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D010505:Familial Mediterranean Fever / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007249:Inflammation / Q000209:etiology / Q000378:metabolism / Q000473:pathology*; D054078:Mevalonate Kinase Deficiency / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics / Q000378:metabolism
D002352:Carrier Proteins; D018124:Receptors, Tumor Necrosis Factor