Zusammenfassung
Systemische autoinflammatorische Erkrankungen sind eine Gruppe von erblichen und nichterblichen Erkrankungen des angeborenen Immunsystems, gekennzeichnet durch in unregelmäßigen Zeitabständen wiederkehrende, scheinbar grundlose Entzündungen mit Manifestationen an der Haut, den Schleimhäuten, Gelenken, Knochen, im Magen-Darm-Trakt, aber auch an Gefäßen und ZNS. Amyloidose und andere mögliche schwere langfristige Komplikationen sind von Bedeutung. Fortschritte in der Genetik und Molekularbiologie haben das Verständnis der Pathogenese dieser Erkrankungen, einschließlich familiärem Mittelmeerfieber, Mevalonatkinase-Mangel-Syndrom, Tumornekrosefaktorrezeptor-assoziiertem periodischem Syndrom, Cryopyrin-assoziierten periodischen Syndromen und anderen verbessert. Die überwiegende Mehrheit dieser Erkrankungen basiert auf einer Aktivierung des Interleukin (IL)-1-Wegs, wodurch die IL-1-Inhibition sich als eine therapeutische Option anbietet. Andere Syndrome werden durch eine granulomatöse Entzündung gekennzeichnet. Neuere autoinflammatorische Erkrankungen, „chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature“ (CANDLE) und „STING-associated vasculopathy with onset in infancy“ (SAVI) dagegen sind z. B. Interferon getrieben.
Abstract
Systemic autoinflammatory diseases are a group of hereditary and non-hereditary diseases of the innate immune system, characterized by inflammation with no apparent cause, recurrence at irregular intervals and manifestation on the skin, mucous membranes, joints, bone, gastrointestinal tract, blood vessels and the central nervous system (CNS). Amyloidosis and other possibly severe long-term complications are important. Advances in genetics and molecular biology have improved understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndrome and improved others. The vast majority of these diseases are based on activation of the interleukin-1 (IL-1) pathway, so that inhibition of IL-1 provides a therapeutic option. Other syndromes are characterized by a granulomatous inflammation. Newer autoinflammatory diseases, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) and stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) are, however, driven by interferons.
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Interessenkonflikt. G. Horneff erhält Forschungsförderung von Abbvie, Chugai, Pfizer und Roche und erhielt Vortragshonorare von Abbvie, Chugai, Pfizer, Novartis und Roche.
Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.
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Horneff, G. Autoinflammatorische Syndrome im Kindesalter. Z Rheumatol 74, 511–526 (2015). https://doi.org/10.1007/s00393-015-1572-7
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DOI: https://doi.org/10.1007/s00393-015-1572-7