The genetic basis of inflammatory bowel disease remains to be elucidated completely. Here we report on a patient with inflammatory bowel disease who has mosaic tetrasomy of the short arm of chromosome 9, a genomic region that harbours the type I interferon gene cluster. We show that increased interferon activation is present in peripheral blood and intestinal tissue from this patient, similar to previous reports of autoinflammatory organ damage driven by interferon activation in other patients with this chromosomal abnormality. To our knowledge, this is the first case of tetrasomy 9p-associated interferonopathy driving intestinal inflammation and highlights the role that type-I interferon pathways can play in the pathogenesis of intestinal inflammation.

Original languageEnglish (US)
Pages (from-to)1474-1478
Number of pages5
JournalJournal of Crohn's and Colitis
Issue number11
StatePublished - Oct 28 2019


  • Tetrasomy 9p
  • inflammatory bowel disease
  • interferonopathy

ASJC Scopus subject areas

  • Gastroenterology


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