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Der Darm im Fokus des Immunsystems

Seltene Darmerkrankungen bei primären Immundefekten

The gut: center of immunity

Rare inflammatory bowel diseases caused by immunodeficiencies

  • Schwerpunkt: Unser Immunsystem – der Staat im Staate
  • Published:
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Zusammenfassung

Die Darmmukosa bildet eine physikalische Barriere und enorme Grenzfläche, an der die angeborene und adaptive Immunabwehr stattfindet, um den Körper vor potenziell schädlichen Substanzen und Erregern zu schützen. Das intestinale Immunsystem ist das größte Immunorgan des Körpers. Es ist ständig aktiv und sorgt für eine geregelte Immunabwehr und Toleranz. Erkrankungen mit gestörter Darmbarriere oder Immunabwehr führen zu infektiösen, chronisch-entzündlichen und autoimmunen Darmerkrankungen unter dem klinischen Bild von Durchfall, blutigen Stühlen und Malabsorption sowie im Kindesalter auch Gedeihstörung. Die differenzialdiagnostische Abklärung stellt bei dieser Gruppe seltener Erkrankungen eine interdisziplinäre Herausforderung dar. In Abhängigkeit von der zugrunde liegenden Störung des Immunsystems finden sich häufig typische klinische, immunologische und histologische Befunde, die in der Zusammenschau zur endgültigen Diagnosestellung mit molekulardiagnostischer Bestätigung beitragen. Histologische Befunde bei angeborenen Immundefekten mit Darmbeteiligung und die Immunpathologie werden im Folgenden beispielhaft für unterschiedliche Entitäten angeborener Immundefekte dargestellt.

Abstract

The gut is the largest immune organ of the human body with an enormous mucosal interface. By acting as a physical barrier and by hosting many of the body’s immune cells and tissues, the gut is the first line of defense against potentially harmful substances. Therefore, diseases leading to impaired immune response or disruption of the epithelial barrier result in autoimmune, infectious, or inflammatory bowel disease, frequently associated with diarrhea, malabsorption, melena, and growth failure. The differential diagnosis represents an interdisciplinary challenge in this group of rare diseases. The diseases are characterized by clinical, immunological, and histopathological features caused by mutations in single genes. In the following, we will focus on histological findings within the various entities of immunodeficiencies.

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Authors and Affiliations

  1. Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Ulm, Eythstr. 24, 89075, Ulm, Deutschland

    Carsten Posovszky

  2. Institut für Pathologie, Universitätsklinikum Ulm, Albert-Einstein-Allee 8, 89081, Ulm, Deutschland

    Thomas F. E. Barth

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  1. Carsten Posovszky
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Correspondence to Carsten Posovszky.

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Interessenkonflikt

C. Posovszky und T. F. E. Barth geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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Schwerpunktherausgeber

P. Möller, Ulm

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Posovszky, C., Barth, T.F.E. Der Darm im Fokus des Immunsystems. Pathologe 41, 211–223 (2020). https://doi.org/10.1007/s00292-020-00775-y

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  • DOI: https://doi.org/10.1007/s00292-020-00775-y

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