Typ-1-Interferonopathien

Zusammenfassung

Die Aufklärung der genetischen Ursachen des Aicardi-Goutières-Syndroms und des familiären Chilblain-Lupus hat zur Identifizierung neuer pathophysiologischer Mechanismen beigetragen, die primär über das angeborene Immunsystem vermittelt werden und zu Autoinflammation und Autoimmunität führen. Diese als Typ-1-Interferonopathien bezeichneten seltenen Erkrankungen sind durch eine Dysregulation der Typ-1-Interferon (IFN)-Achse gekennzeichnet, die in einer inadäquaten Typ-1-IFN-Aktivierung resultiert. Die bisher gewonnenen Einblicke in die molekulare Pathogenese der Typ-1-Interferonopathien haben auch hohe Relevanz für unser Verständnis multifaktoriell bedingter Autoimmunkrankheiten wie dem systemischen Lupus erythematodes und können als Ausgangspunkt für die Entwicklung neuer kausal orientierter Therapieansätze dienen.

Summary

The elucidation of the genetic causes underlying the rare monogenic disorders Aicardi-Goutières syndrome and familial chilblain lupus has revealed novel disease mechanisms causing autoinflammation and autoimmunity. These so-called type 1 interferonopathies are characterized by a dysregulation of the type 1-IFN axis, which results in an inadequate type 1-IFN activation. Our current understanding of the molecular pathogenesis of type 1 interferonopathies is also highly relevant to our understanding of multifactorial autoimmune diseases such as systemic lupus erythematosus and can serve as a starting point for the development of novel causally oriented therapeutic approaches.

Schlüsselwörter

Typ-1-Interferon - Autoimmunität - Aicardi-Goutières-Syndrom - familiärer Chilblain-Lupus - systemischer Lupus erythematodes

Keywords

Type 1-interferon - autoimmunity - familial chilblain lupus - systemic lupus erythematosus

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