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XIAP deficiency is a mendelian cause of late-onset IBD
  1. Carsten Speckmann,
  2. Stephan Ehl
  1. Center for Chronic Immunodeficiency, University of Freiburg, Freiburg, Germany
  1. Correspondence to Dr Carsten Speckmann, Center for Chronic Immunodeficiency, University of Freiburg, Breisacher Str. 177, Freiburg 79106, Germany; carsten.speckmann{at}

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We read with interest the review by Holm Uhlig on monogenic diseases associated with intestinal inflammation.1 XIAP deficiency, caused by X-linked inherited mutations in BIRC4, is highlighted as a mendelian cause of very early onset IBD. Consistently with the observation of Crohn's disease (CD) in XIAP deficiency, the RING activity of XIAP was recently shown to be required for NOD2-dependent immune responses.2 In his review Dr Uhlig suggests to consider monogenetic diseases as causes for IBD particularly in patients younger than 6 years of age. In addition to the reviewed literature, our group has recently reported …

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  • Contributors CS and S E designed the study, recruited patients and wrote the manuscript.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval University of Freiburg Medical Center.

  • Provenance and peer review Not commissioned; internally peer reviewed.