title: [Genetic methods for analysis of autoinflammatory diseases].
abstract: Over the past years the phenotypic and genetic spectrum of autoinflammatory diseases has continuously increased. Moreover, several monogenic autoinflammatory disorders have now been identified where febrile episodes are not among the leading symptoms and which can be accompanied by autoimmune phenomena and susceptibility to infections. Autoinflammatory conditions that are characterized by uncontrolled activity of cytokines, such as interleukin-1 beta (IL1β), tumor necrosis factor alpha (TNF-α) and type 1 interferons (1-IFN), are amenable to specific therapeutic interventions. Thus, identification of the underlying genetic cause is important. During diagnostic work-up, genetic testing of a patient with autoinflammation should be carried out depending on the clinical presentation. If a distinct disorder is suspected, sequencing of the causative gene should be performed. Genetic tests using next generation sequencing (NGS), such as panel sequencing, exome sequencing and array comparative genomic hybridization (CGH) can be carried out if symptoms cannot be assigned to a specific disease entity.
authors.affiliation: Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland.
authors.forename: M
authors.initials: M
authors.lastname: Bienias
authors.affiliation: Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland.
authors.forename: N
authors.initials: N
authors.lastname: König
authors.affiliation: Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland.
authors.forename: C
authors.initials: C
authors.lastname: Wolf
authors.affiliation: Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland.
authors.forename: S
authors.initials: S
authors.lastname: Kretschmer
authors.affiliation: Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland.
authors.forename: A
authors.initials: A
authors.lastname: Rösen-Wolff
authors.affiliation: Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland.
authors.forename: R
authors.initials: R
authors.lastname: Berner
authors.affiliation: Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland.
authors.forename: V
authors.initials: V
authors.lastname: Tüngler
authors.affiliation: Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland. minae.lee-kirsch@uniklinikum-dresden.de.
authors.forename: M A
authors.initials: MA
authors.lastname: Lee-Kirsch
mesh_terms: D016207:Cytokines / Q000235:genetics*; D019317:Evidence-Based Medicine; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D012216:Rheumatic Diseases / Q000175:diagnosis* / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*
chemical_list: D016207:Cytokines; D005819:Genetic Markers
keywords: Autoinflammation; Cytokines; Infection; Sequencing; Susceptibility to infection