Primäre Immundefekte und Autoimmunität

ZUSAMMENFASSUNG

Primäre Immundefekte sind seltene angeborene Erkrankungen, die lange Zeit vor allem durch eine erhöhte Infektanfälligkeit und das Auftreten schwerer und opportunistischer Infektionen charakterisiert waren. In den letzten Jahren wurden aber zunehmend primäre Immundefekte identifiziert, bei denen die Immundysregulation im Vordergrund steht und die durch Autoimmunität und Autoinflammation gekennzeichnet sind. Chronische Arthritiden und andere rheumatologische Symptome können dabei nicht nur als Komplikation der Immundefekte auftreten, sondern auch eines der charakteristischen Krankheits-definierenden Symptome darstellen. Gerade im Kindes- und Jugendalter kann die rheumatologische Manifestation zudem als erstes klinisches Symptom des zugrunde liegenden Immundefekts auftreten. Daher ist in der Kinder- und Jugendrheumatologie ein grundlegendes Wissen über primäre Immundefekte unabdingbar. Im folgenden Übersichtsartikel soll ein Überblick über primäre Immundefekte, die mit rheumatologischen Symptomen einhergehen können, gegeben werden. Ein besonderer Fokus liegt dabei auf kürzlich charakterisierten neuen Immundefekten, bei denen die Autoimmunität häufig im Vordergrund steht.

SUMMARY

Primary immunodeficiencies are rare diseases generally characterized by increased susceptibility to infections. In contrast to this definition, over the last years several primary immunodeficiency syndromes were identified that mainly present with immune dysregulation, namely autoimmunity and autoinflammation, as major manifestations. In some cases, chronic arthritis and other rheumatological phenomena might be the most important symptom in these immunodeficiencies. Especially in children and teenagers, rheumatological symptoms can also be the first and, at time of diagnosis, only symptom of the underlying immune dysregulation. Therefore, pediatric rheumatologists should provide a basic knowledge about primary immunodeficiencies. This review comprises recent updates on primary immunodeficiencies with immune dysregulation and rheumatological manifestations.

Schlüsselwörter

Primärer Immundefekt - Immundysregulation - Lymphoproliferation - CVID

Keywords

Primary immunodeficiency - immune dysregulation - lymphoproliferation - CVID

Publikationsverlauf

Artikel online veröffentlicht:
10. Dezember 2020

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