Typ-1-Interferonopathien

ZUSAMMENFASSUNG

Die Typ-1-Interferonopathien umfassen eine Gruppe seltener, genetisch und phänotypisch heterogener Erkrankungen, die durch eine chronische Typ-1-IFN-Aktivierung gekennzeichnet sind und denen eine Fehlfunktion des angeborenen Immunsystems zugrunde liegt. Das breite und variable klinische Spektrum ist durch das gemeinsame Auftreten von Autoinflammation und Autoimmunität, aber auch einer möglichen Immundefizienz charakterisiert. Ursächlich sind meist Störungen im Metabolismus oder Sensing von Nukleinsäuren, welche zu einer pathologischen, konstitutiven Aktivierung der Typ-1-IFN-Achse mit schädlichen Folgen für den Wirtsorganismus führen. Januskinase-Inhibitoren können eine effektive Therapieoption darstellen.

ABSTRACT

The type 1 interferonopathies comprise a group of rare, genetically and phenotypically heterogeneous diseases characterized by a constitutive activation of type I interferon that is caused by a dysfunction of the innate immune system. The broad and variable clinical spectrum is characterized by the co-occurrence of autoinflammation, autoimmunity and immunodeficiency. Most commonly, pertubations in the metabolism or sensing of nucleic acids are responsible for the pathological constitutive activation of the type I IFN axis with harmful consequences for the host organism. Janus kinase inhibitors may provide an effective therapeutical option.

Schlüsselwörter

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

Keywords

Type 1 interferons - innate immunity - autoinflammation - autoimmunity - genetics

Publication History

Article published online:
07 September 2022

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