Contact information
https://orcid.org/0000-0002-6111-7355
Centre for Human Genetics, University of Oxford.
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Holm Uhlig
Professor of Paediatric Gastroenterology
- Director Centre for Human Genetics
The gastrointestinal immune system has evolved to counteract the invasion of pathogens. To allow a strong inflammatory immune response during infection but avoid tissue damage there is a need for effective immune regulation. Defects in immune regulation lead to immunopathology such as inflammatory bowel disease or environmental enteropathy or celiac disease.
About one-fifth of all patients with inflammatory bowel disease present with initial symptoms during childhood and adolescents. In particular in the very young children patients, an underlying immunodeficiency may cause Iinflammatory bowel disease-like symptoms. The analysis of immune deviation in children with inflammatory bowel disease does contribute to the understanding of the complex puzzle of molecular mechanisms involved in IBD.
Recent publications
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Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome.
Waich S. et al, (2025), JCI insight, 10
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Upadacitinib for Induction of Remission in Paediatric Crohn's Disease: An International Multicentre Retrospective Study.
Cohen S. et al, (2025), Alimentary pharmacology & therapeutics
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Effectiveness and Safety of Adalimumab in Patients With Very Early-Onset Inflammatory Bowel Disease: A Retrospective Study on Behalf of the Porto Inflammatory Bowel Disease Working Group of European Society for Pediatric Gastroenterology Hepatology and Nutrition.
Weintraub Y. et al, (2025), Inflammatory bowel diseases
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Upadacitinib for Induction of Remission in Pediatric Ulcerative Colitis: An International Multi‑center Study.
Yerushalmy-Feler A. et al, (2024), J Crohns Colitis
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A longitudinal single-cell atlas of anti-tumour necrosis factor treatment in inflammatory bowel disease.
Thomas T. et al, (2024), Nature immunology, 25, 2152 - 2165