title: [Autoinflammatory syndrome].
abstract: The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.
authors.affiliation: First Department of Internal Medicine, Graduate School of Biomedical Sciences, Nagasaki University.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Ida
authors.forename: Katsumi
authors.initials: K
authors.lastname: Eguchi
mesh_terms: D001170:Arthritis, Infectious; D001323:Autoantibodies; D002352:Carrier Proteins; D015195:Drug Design; D010505:Familial Mediterranean Fever; D005334:Fever / Q000145:classification / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007113:Immunity, Innate; D007072:Immunoglobulin D; D007249:Inflammation / Q000145:classification / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D010507:Periodicity; D017511:Pyoderma Gangrenosum; D018124:Receptors, Tumor Necrosis Factor; D013577:Syndrome; D013601:T-Lymphocytes / Q000276:immunology
chemical_list: D001323:Autoantibodies; D002352:Carrier Proteins; D007072:Immunoglobulin D; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D018124:Receptors, Tumor Necrosis Factor