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DOI: 10.1055/s-0037-1617988
Primäre Immundefekte und Autoimmunität
Rheumatologische Manifestationen bei pädiatrischen Patienten mit primären ImmundefektenPrimary immunodeficiency and autoimmunityRheumatological manifestations in pediatric patients with primary immunodeficiencyPublikationsverlauf
Publikationsdatum:
27. Dezember 2017 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00034922/201403/lookinside/thumbnails/10-1055s-0037-1617988_de-1.jpg)
Zusammenfassung
Primäre Immundefekte sind seltene Erkrankungen, die durch eine erhöhte Infektanfälligkeit und das Auftreten schwerer und opportunistischer Infektionen gekennzeichnet sind. Trotz des Immundefektes treten häufig Autoimmunsymptome auf. Dabei steht bei einigen Immundefekten die Autoimmunität im Vordergrund, wohingegen bei anderen Immundefekten Autoimmunsymptome eher als eine Komplikation angesehen werden. In Bezug auf rheumatologische Manifestationen treten insbesondere chronische Arthritiden, aber auch ein systemischer Lupus erythemodes oder Vaskulitiden auf. Die Pathogenese der Autoimmunität bei primären Immundefekten ist je nach Erkrankung unterschiedlich und nicht vollständig verstanden. Therapeutisch empfiehlt sich zunächst eine Behandlung gemäß den entsprechenden Richtlinien. Häufig gestaltet sich die Behandlung jedoch schwierig, so dass alternative Behandlungsstrategien versucht werden müssen. Bei vielen primären Immundefekten stellt inzwischen die Stammzelltransplantation einen kurativen Lösungsansatz dar. Diese führt bei erfolgreicher Durchführung meistens auch zur Remission der Autoimmunsymptome.
Summary
Primary immunodeficiencies are rare diseases. Patients have an increased susceptibility to infection and suffer from severe and opportunistic infections. Despite the immuno deficiency, patients often also suffer from autoimmune symptoms. Autoimmune symptoms can be the major characteristic of the primary immunodeficiency or only a complication. Regarding rheumatologic autoimmune manifestations, mainly chronic arthritis, systemic lupus erythematodes and vasculitis are observed. The pathogenesis of autoimmunity in primary immunodeficiency is diverse and not well understood. Rheumatologic symptoms should be treated according to the corresponding guidelines. However, treatment is often difficult and alternative therapies have to be considered. Stem cell transplantation offers a curative therapy for a variety of primary immunodeficiency and usually, if successful, also resolves autoimmune symptoms.
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