title: [Clinical aspects and genetics of proteasome-associated autoinflammatory syndromes (PRAAS)].
abstract: Functional disorders of the proteasome can have a severe impact on the innate immune system. Characterized by an autosomal recessive mode of inheritance, this novel type of interferonopathy is considered to be a spectrum of diseases of proteasome-associated autoinflammatory syndromes (PRAAS). Accumulation of ubiquitinated proteins and the induction of type I interferon (IFN) genes seem to play a role in the pathogenesis. The typical clinical manifestations are lipodystrophy, skin, joint and muscle involvement accompanied by a remarkable variability of other associated symptoms. This article provides an overview on currently known molecular alterations as well as clinical similarities and differences of PRAAS. Furthermore, the reported effects of the immunosuppressive therapy approaches used so far are summarized.
authors.affiliation: Klinik für Rheumatologie und Klinische Immunologie, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland. eugen.feist@charite.de.
authors.forename: E
authors.initials: E
authors.lastname: Feist
authors.affiliation: Institut für Biochemie, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland.
authors.forename: A
authors.initials: A
authors.lastname: Brehm
authors.affiliation: Klinik für Pädiatrie m.S. Pneumologie und Immunologie, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Deutschland.
authors.forename: T
authors.initials: T
authors.lastname: Kallinich
authors.affiliation: Institut für Biochemie, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland.
authors.forename: E
authors.initials: E
authors.lastname: Krüger
mesh_terms: D016207:Cytokines / Q000276:immunology*; D019317:Evidence-Based Medicine; D056660:Hereditary Autoinflammatory Diseases / Q000276:immunology*; D006801:Humans; D058847:Inflammasomes / Q000276:immunology*; D007370:Interferon Type I / Q000276:immunology*; D008060:Lipodystrophy / Q000276:immunology*; D046988:Proteasome Endopeptidase Complex / Q000276:immunology*
chemical_list: D016207:Cytokines; D058847:Inflammasomes; D007370:Interferon Type I; D046988:Proteasome Endopeptidase Complex
keywords: Immune system; Immunoproteasome; Immunosuppression; Lipodystrophy; Pathogenesis