Autoinflammatorische Syndrome

Insbesondere durch die Anwendung der Next-Generation-Sequenzierung wurden in den letzten Jahren viele monogene autoinflammatorische Erkrankungen identifiziert [1]. Dieser enorme Wissenszuwachs trug wesentlich dazu bei, neue Krankheitsmechanismen zu verstehen und Krankheitsbilder klar zu definieren. Zudem ermöglichen diese Untersuchungen, Erkrankungen aufgrund gemeinsamer pathophysiologischer Mechanismen in Gruppen einzuordnen.

Abstract

In particular, the use of next-generation sequencing has led to the identification of many monogenic autoinflammatory diseases in recent years. This enormous increase in knowledge has contributed significantly to understanding new disease mechanisms and clearly defining clinical pictures. In addition, these studies make it possible to classify diseases into groups based on common pathophysiological mechanisms.

Schlüsselwörter

CAPS - Autoinflammatorische Erkrankungen - TRAPS - familiäres Mittelmeerfieber - VEXAS-Syndrom - Genetische Untersuchung - Amyloidose - Monitoring

Keywords

CAPS - Autoinflammatory diseases - TRAPS - family Mediterranean fever - VEXAS syndrome - Genetic testing - amyloidosis - monitoring

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