Genetic Defects in Early-Onset Inflammatory Bowel Disease

Rheum Dis Clin North Am. 2023 Nov;49(4):861-874. doi: 10.1016/j.rdc.2023.06.006.Epub 2023 Aug 12.


Atiye Olcay Bilgic Dagci 1Kelly Colleen Cushing 2


Author information

1Division of Pediatric Rheumatology, University of Michigan, C.S Mott Children's Hospital, 1500 East Medical Center Drive Medical Professional Building Floor 2, Ann Arbor, MI 48109-5718, USA. Electronic address: bilgicda@med.umich.edu.

2Division of Gastroenterology, U-M Inflammatory Bowel Disease Program, University of Michigan, 3912 Taubman Center, 1500 East Medical Center Drive, SPC 5362, Ann Arbor, MI 48109-5362, USA.


Inflammatory bowel disease (IBD) represents a spectrum of disease, which is characterized by chronic gastrointestinal inflammation. Monogenic mutations driving IBD pathogenesis are more highly represented in early-onset compared to adult-onset disease. The pathogenic genes which dysregulate host immune responses in monogenic IBD affect both the innate (ie, intestinal barrier, phagocytes) and adaptive immune systems (ie, T cells, B cells). Advanced genomic and targeted functional testing can improve clinical decision making and present increased opportunities for precision medicine approaches in this important patient population.

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