title: [Hereditary systemic autoinflammatory diseases].
abstract: Systemic autoinflammatory diseases encompass different rare clinical entities characterized by recurrent acute inflammatory episodes secondary to a dysregulated inflammatory process. Since their first clinical descriptions, the Mendelian hereditary nature of some of them became evident, with their genetic and molecular basis being recently elucidated. There are disease-causing mutations in genes encoding for different proteins involved in the innate immune response and inflammation. Herein, we will introduce the reader to an updated review of the main clinical, physiopathological and therapeutic features of the different hereditary systemic autoinflammatory diseases.
authors.affiliation: Unidad de Enfermedades Autoinflamatorias, Servicio de Inmunología, Hospital Clínic, Villarroel, Barcelona, España. jiaroste@clinic.ub.es
authors.forename: Juan I
authors.initials: JI
authors.lastname: Aróstegui
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics; D056660:Hereditary Autoinflammatory Diseases / Q000145:classification / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D006801:Humans; D058847:Inflammasomes / Q000276:immunology; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics; D014409:Tumor Necrosis Factor-alpha / Q000502:physiology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D058847:Inflammasomes; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; C486382:PSTPIP1 protein, human; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human; D014409:Tumor Necrosis Factor-alpha; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase