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Cellular and Molecular Life Sciences

, Volume 69, Issue 1, pp 41–48 | Cite as

Inflammatory bowel disease: is it a primary immunodeficiency?

  • Erik GlockerEmail author
  • Bodo GrimbacherEmail author
Multi-author review

Abstract

Inflammatory bowel diseases (IBD) such as ulcerative colitis and Crohn’s disease are chronic and relapsing conditions, characterized by abdominal pain, diarrhea, bleeding and malabsorption. IBD has been considered a hyperinflammatory state due to disturbed interactions between the immune system and the commensal bacterial flora of the gut. However, there is evidence that Crohn’s disease might be the consequence of a reduced release of pro-inflammatory cytokines and an impaired acute inflammatory response, thereby suggesting that IBD might be an immunodeficiency rather than an excessive inflammatory reaction. This theory has been supported by observations in patients with primary immunodeficiencies such as the Wiskott–Aldrich syndrome and IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). In contrary, defects in the anti-inflammatory down-regulation of the immune response as they are seen in patients with Mendelian defects in the IL10 signaling pathway support the hyper-inflammatory theory. In this review, we describe and discuss primary immunodeficiencies associated with IBD and show that the bowel is a highly sensitive indicator of dysregulations, making IBD a model disease to study and identify key regulators required to balance the human mucosal immune system.

Keywords

Inflammatory bowel disease Immunodeficiency IL10 deficiency IL10R deficiency Crohn’s disease Wiskott–Aldrich syndrome CGD IPEX 

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Copyright information

© Springer Basel AG 2011

Authors and Affiliations

  1. 1.Institute of Medical Microbiology and HygieneUniversity Medical Centre FreiburgFreiburgGermany
  2. 2.Centre of Chronic ImmunodeficiencyUniversity Medical Centre FreiburgFreiburgGermany
  3. 3.Department of ImmunologyUniversity College London Medical School (Royal Free Campus)LondonUK

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