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

Research output: Contribution to journalResearch articleContributedpeer-review



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.

Translated title of the contribution
Chronic or severe enteropathy and immunodeficiency
be prepared for a rara avis


Original languageGerman
Pages (from-to)1668-1677
Number of pages10
JournalZeitschrift fur Gastroenterologie
Issue number11
Publication statusPublished - 16 Mar 2022

External IDs

Scopus 85127650633
unpaywall 10.1055/a-1709-5024
Mendeley 6dee895d-a1cf-32ea-9f96-1775053b687b
ORCID /0009-0003-6519-0482/work/143074877


DFG Classification of Subject Areas according to Review Boards

ASJC Scopus subject areas


  • Humans, Inflammatory Bowel Diseases/diagnosis, Inflammation

Library keywords