Mosaic Tetrasomy 9p Associated With Inflammatory Bowel Disease
| Autor: | Petro Starokadomskyy, Prasad Koduru, Ezra Burstein, Jacob Welch, Jason Y. Park, Luis Sifuentes-Dominguez, Bhaskar Gurram |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Inflammation Chromosome 9 Inflammatory bowel disease Pathogenesis 03 medical and health sciences 0302 clinical medicine Short Reports Interferon Gene cluster medicine Humans Antigens Intestinal Mucosa Child In Situ Hybridization Fluorescence Mosaicism business.industry Gastroenterology General Medicine Aneuploidy Inflammatory Bowel Diseases medicine.disease Cytoskeletal Proteins 030104 developmental biology 030220 oncology & carcinogenesis Immunology Tetrasomy Female medicine.symptom Tetrasomy 9p Chromosomes Human Pair 9 business medicine.drug |
| Zdroj: | J Crohns Colitis |
| ISSN: | 1876-4479 1873-9946 |
| DOI: | 10.1093/ecco-jcc/jjz079 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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