Mosaic Tetrasomy 9p Associated With Inflammatory Bowel Disease

Luis Sifuentes-Dominguez, Petro Starokadomskyy, Jacob Welch, Bhaskar Gurram, Jason Y. Park, Prasad Koduru, Ezra Burstein

Research output: Contribution to journalArticle

Abstract

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 & colitis
Volume13
Issue number11
DOIs
StatePublished - Oct 28 2019

Fingerprint

Inflammatory Bowel Diseases
Interferon Type I
Interferons
Inflammation
Multigene Family
Chromosome Aberrations
Tetrasomy 9p Chromosome 9

Keywords

  • inflammatory bowel disease
  • interferonopathy
  • Tetrasomy 9p

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Mosaic Tetrasomy 9p Associated With Inflammatory Bowel Disease. / Sifuentes-Dominguez, Luis; Starokadomskyy, Petro; Welch, Jacob; Gurram, Bhaskar; Park, Jason Y.; Koduru, Prasad; Burstein, Ezra.

In: Journal of Crohn's & colitis, Vol. 13, No. 11, 28.10.2019, p. 1474-1478.

Research output: Contribution to journalArticle

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