Typ-1-Interferonopathien

ZUSAMMENFASSUNG

Die Typ-1-Interferonopathien umfassen eine klinisch heterogene Gruppe seltener Erkrankungen, die auf einer genetisch bedingten Fehlfunktion des angeborenen Immunsystems beruhen. Zentrales Merkmal ist eine chronisch gesteigerte Aktivität der antiviralen Typ-1-Interferon(IFN)-Achse, die zu einer Immundysregulation führt. Das klinische Spektrum der Typ-1-Interferonopathien ist breit und primär durch Autoinflammation und Autoimmunität gekennzeichnet, wobei bei einigen Erkrankungen auch eine Infektneigung auftreten kann. Neben systemischen Zeichen wie Fieberschüben und erhöhten Entzündungswerten können verschiedene organspezifische Manifestationen auftreten. Pathogenetisch liegen den Typ-1-Interferonopathien Störungen des Metabolismus und der immunologischen Erkennung von intrazellulären Nukleinsäuren zugrunde. Da einige Erkrankungen therapeutisch auf eine immunmodulatorische Intervention ansprechen, die der inadäquaten Typ-1-IFN-Aktvierung entgegenwirkt, ist eine möglichst frühzeitige Diagnose von großer Bedeutung.

Schlüsselwörter

Typ-1-Interferon - Autoinflammation - Autoimmunität - angeborene Immunität - Genetik - Pathogenese - Nukleinsäure-Immunität

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