Chronische oder schwere Darmerkrankung und Immundefekt: Manchmal ist es doch ein Kolibri

Zusammenfassung

Bei der Abklärung chronischer Darmerkrankungen sollte in bestimmten Fällen auch an einen primären (=angeborenen) Immundefekt (PID) gedacht werden. PIDs sind selten, aber mindestens 10 % der Betroffenen entwickeln eine Darmentzündung. Patienten mit einer chronisch-entzündlichen Darmentzündung (CED) aufgrund eines PID haben oft extraintestinale Manifestationen und sprechen auf die konventionelle Therapie oft nicht oder nur ungenügend an. Die frühkindliche Manifestation einer CED und bestimmte intestinale und extraintestinale Manifestationen können wegweisend für einen PID sein. Für einen kleinen Teil der monogenetisch verursachten Immundefekte wurde gezeigt, dass sie gezielt medikamentös behandelt oder durch eine allogene Stammzelltransplantation sogar geheilt werden können. Dafür ist eine frühzeitige und gezielte Diagnostik notwendig. Dieser Beitrag soll exemplarisch zeigen, wann klinische – sowohl gastrointestinale als auch extraintestinale – Zeichen und Befunde eine immunologische und gegebenenfalls genetische Diagnostik erfordern.

Abstract

In the work-up of chronic enteropathies an underlying inborn error of immunity (IEI) should be considered in certain cases. IEI are rare, but approximately 10% of patients may present with symptoms of inflammatory bowel disease (IBD), which is a much more common entity. Patients with IEI associated IBD may show extraintestinal symptoms or signs, and are often refractory to conventional anti-inflammatory treatment. In case of early-onset bowel inflammation and other intestinal or extraintestinal manifestations, an IEI should be excluded. A small fraction of monogenic IEI can be amenable to targeted therapies, or even corrected by allogeneic stem cell transplantation. Therefore, early diagnosis is crucial. This paper shows examples of clinical – gastrointestinal as well as extraintestinal – signs and findings which require immunological and possibly genetic workup.

Schlüsselwörter

chronisch entzündliche Darmerkrankung - primäre Immundefekte

Keywords

inflammatory bowel disease - primary immunodeficiencies

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