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. 2023 May;64(5):442-451.
doi: 10.1007/s00108-023-01505-1. Epub 2023 Apr 28.

[Autoinflammatory syndromes]

[Article in German]
Hanna Bonnekoh  1   2 , Martin Krusche  3 , Eugen Feist  4 , Annette Doris Wagner  5 , Anne Pankow  6   7
Affiliations

[Autoinflammatory syndromes]

[Article in German]
Hanna Bonnekoh et al. Inn Med (Heidelb). 2023 May.

Abstract
in English, German

The concept of autoinflammation includes a heterogeneous group of monogenic and polygenic diseases. These are characterized by excessive activation of the innate immune system without antigen-specific T cells or autoantibodies. The diseases are characterized by periodic episodes of fever and increased inflammation parameters. Monogenic diseases include familial Mediterranean fever (FMF) and the newly described VEXAS (vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) syndrome. Heterogeneous diseases include adult-onset Still's disease and Schnitzler syndrome. Treatment is aimed at preventing the excessive inflammatory reaction in order to avoid long-term damage, such as amyloid A (AA) amyloidosis.

Das Konzept der Autoinflammation umfasst eine heterogene Gruppe monogenetischer und polygener Erkrankungen. Kennzeichnend ist eine übermäßige Aktivierung des angeborenen Immunsystems ohne antigenspezifische T‑Zellen oder Autoantikörperbildung. Periodische Fieberschübe und erhöhte serologische Entzündungszeichen sind charakteristisch. Zu den monogenetischen Erkrankungen zählen unter anderem das familiäre Mittelmeerfieber sowie das neu beschriebene VEXAS-Syndrom (VEXAS „vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic“). Zu den heterogenen Erkrankungen zählen unter anderem das Still-Syndrom und das seltene Schnitzler-Syndrom. Die Therapie zielt auf die Verhinderung der überschießenden Entzündungsreaktion ab, um langfristige Schäden, wie das Auftreten einer Amyloid-A(AA)-Amyloidose, zu vermeiden.

Keywords: Autoinflammatory diseases; Familial Mediterranean fever; Schnitzler syndrome; Still’s disease, adult-onset; VEXAS syndrome.

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References

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