Zusammenfassung
Monogene autoinflammatorische Erkrankungen präsentieren sich mit systemischer Inflammation unter Einbeziehung multipler Organe. Mithilfe moderner molekulargenetischer Techniken konnte in den letzten Jahren eine Vielzahl an Erkrankungen mit bisher unbekannten Pathomechanismen beschrieben werden. Diese Erkenntnisse können herangezogen werden, um autoinflammatorische Erkrankungen anhand der involvierten Signalwege zu gruppieren und somit ein besseres Verständnis dieser Entitäten zu vermitteln.
Abstract
Monogenic autoinflammatory diseases present with systemic inflammation with the involvement of multiple organs. With the help of modern molecular genetic techniques a large number of diseases with previously unknown pathomechanisms have been described in recent years. This knowledge can be utilized to group autoinflammatory diseases according to the signalling pathways involved and thus provide a better understanding of these entities.
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Kallinich, T., Hinze, C. & Wittkowski, H. Klassifikation autoinflammatorischer Erkrankungen anhand pathophysiologischer Mechanismen. Z Rheumatol 79, 624–638 (2020). https://doi.org/10.1007/s00393-020-00794-3
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DOI: https://doi.org/10.1007/s00393-020-00794-3