Mott Cell-Featuring Inflammatory Bowel Disease with DNA Polymerase Epsilon Resolved by Hematopoietic Cell Transplantation
Lay Summary Pathogenic variants in POLE are linked to a novel form of infantile-onset inflammatory bowel disease with Mott cell infiltration. In this novel form of inflammatory bowel disease, hematopoietic cell transplantation induces mucosal healing, suggesting a distinct disease mechanism and therapeutic potential.
Authors
- Takako Yoshioka (ORCID: https://orcid.org/0000-0002-2644-1846)
- Ohsuke Migita (ORCID: https://orcid.org/0000-0002-4276-6018)
- Akira Ishiguro (ORCID: https://orcid.org/0000-0002-3896-5313)
- Hirotaka Shimizu (ORCID: https://orcid.org/0000-0001-7173-0420)
- Ayame Ogawa (ORCID: https://orcid.org/0009-0002-9282-8958)
- Kimikazu Matsumoto (ORCID: https://orcid.org/0000-0002-5340-3781)
- Kentaro Fujimori (ORCID: https://orcid.org/0000-0002-6136-4903)
- Toshinao Kawai (ORCID: https://orcid.org/0000-0002-4152-9301)
- Katsuhiro Arai (ORCID: https://orcid.org/0000-0002-6440-4640)
- Ichiro Takeuchi (ORCID: https://orcid.org/0000-0003-2198-913X)
- Toru Uchiyama (ORCID: https://orcid.org/0000-0001-9610-0900)
- Satoshi Narumi (ORCID: https://orcid.org/0000-0002-0940-4517)
- Chizuko Haga
- Kanako Tanase‐Nakao (ORCID: https://orcid.org/0009-0008-6823-9938)
- Kenichiro Hata (ORCID: https://orcid.org/0000-0002-7809-7637)
- Kosuke Taniguchi (ORCID: https://orcid.org/0000-0003-1562-3764)
- Takashi Kato (ORCID: https://orcid.org/0000-0003-0384-7971)
- Akihiro Iguchi (ORCID: https://orcid.org/0000-0002-2582-5848)
- Hidenori Akutsu
Institutions
- Waseda University (JP)
- St. Marianna University School of Medicine (JP)
- Gunma University (JP)
- Keio University (JP)
- National Center For Child Health and Development (JP)
- National Hospital Organization (JP)
- National Disaster Medical Center (JP)
Publication Details
- Journal
- Inflammatory Bowel Diseases
- Published
- 2025-09-09
- DOI
- https://doi.org/10.1093/ibd/izaf224
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00