Genetic Variants Linked to Pediatric Early Onset IBD

Researchers at the Children's Hospital of Philadelphia (CHOP) recently discovered specific genetic variants that are carried by children with very early onset inflammatory bowel disease (IBD).

Researchers at the Children’s Hospital of Philadelphia (CHOP) recently discovered specific genetic variants that are carried by children with very early onset inflammatory bowel disease (IBD).

The CHOP researchers worked to assess if patients with very early onset IBD had rare or new variants in genes linked to immunodeficiency disorders. The research team studied DNA in a group of 125 individuals, from three weeks to four years of age, with very early onset IBD and a group of 19 parents — four of whom were afflicted with IBD.

Additionally, the team used a new whole exome sequencing technology to study genetic variants. The researchers found novel variants that were involved in the regulation of B and T immune system cells (important immune system cells).

Judith Kelsen, MD, pediatric gastroenterologist, CHOP, remarked, “Our findings reinforce other research that has revealed considerable overlap among genes involved in different immune-related diseases. This overlap is reflected in the fact that very early onset IBD may be a form of a primary immunodeficiency.”

When considering further research, the team believed genetic variants could significantly contribute to IBD pathogenesis, potentially allowing the development of more targeted treatments.

Kelsen concluded, “Evaluation and treatment guidelines are not yet standardized for children with early onset IBD, but we have found that this subtype of IBD is somewhat different from IBD that it begins later. As we better understand the specific components of the immune system that may be involved in this disease, clinicians will be better prepared to individualize treatment to each patient.”