Contact information
https://orcid.org/0000-0002-6111-7355
Centre for Human Genetics, University of Oxford.
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
TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT.
Journal article
Prunotto G. et al, (2026), J Hum Immun, 2
Targeting SYK to alleviate MDSC-driven immunosuppression and augment anti-PD1 efficacy.
Journal article
Zeng Z. et al, (2026), Sci China Life Sci
HLA-DRB1*01:03 in patients with inflammatory bowel disease: a genotype-phenotype association study.
Journal article
Zhang Q. et al, (2026), Lancet Gastroenterol Hepatol
Interleukin-10 Autoantibodies and HLA-DRB1*01:03 in Inflammatory Bowel Disease.
Journal article
Gharahdaghi N. et al, (2026), N Engl J Med, 394, 2212 - 2222
Reshaping study design for faster extrapolation-based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN-NASPGHAN position paper.
Journal article
Turner D. et al, (2026), J Pediatr Gastroenterol Nutr, 82, 867 - 894