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Erschienen in: Die Dermatologie 4/2022

14.03.2022 | CME Zertifizierte Fortbildung

Autoinflammation – Eine klinische und genetische Herausforderung

verfasst von: Prof. Dr. Gerd Horneff, Catharina Schütz, Angela Rösen-Wolff

Erschienen in: Die Dermatologie | Ausgabe 4/2022

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Zusammenfassung

Die klinisch-rheumatologische Praxis ist in den letzten 2 Jahrzehnten mit einer stets steigenden Anzahl autoinflammatorischer Erkrankungen konfrontiert, deren immunologische Pathomechanismen aufgeklärt wurden und die sich teilweise klinisch gut einordnen lassen. Diente die gezielte genetische Diagnostik bislang der Bestätigung der klinischen Diagnose, so hat sich heute die genetische Sequenzierungstechnik verbessert. Die Hochdurchsatzsequenzierung z. B. durch Panelsequenzierung, Whole-Exom- und Whole-Genom-Sequenzierung ermöglicht einen völlig neuen diagnostischen Ansatz. Die Entscheidung zur klinischen und/oder genetischen Diagnosestellung ist damit zur täglichen Herausforderung geworden. In dieser Arbeit werden die klinischen, immunologischen und genetischen Aspekte der autoinflammatorischen Erkrankungen gegenübergestellt.
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Metadaten
Titel
Autoinflammation – Eine klinische und genetische Herausforderung
verfasst von
Prof. Dr. Gerd Horneff
Catharina Schütz
Angela Rösen-Wolff
Publikationsdatum
14.03.2022
Verlag
Springer Medizin
Erschienen in
Die Dermatologie / Ausgabe 4/2022
Print ISSN: 2731-7005
Elektronische ISSN: 2731-7013
DOI
https://doi.org/10.1007/s00105-022-04970-1

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