Investigating the relationship between genotype and phenotype in three pediatric cases with IL10RA mutations and very early-onset inflammatory bowel disease - Takeaways - MDSpire
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Investigating the relationship between genotype and phenotype in three pediatric cases with IL10RA mutations and very early-onset inflammatory bowel disease

  • By

  • Rubiao Qiu

  • Mengxu Zhang

  • Tingting Li

  • Yanping Liang

  • Yumei Wang

  • Songtao Xu

  • January 28, 2026

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  • 1

    Very early-onset inflammatory bowel disease (VEO-IBD) often presents before age six and can be severe with poor response to standard therapies.

  • 2

    Mutations in IL10RA are linked to VEO-IBD, causing immune cells to become insensitive to IL-10, leading to excessive intestinal inflammation.

  • 3

    The study analyzed three pediatric VEO-IBD cases with different IL10RA mutations to explore genotype-phenotype correlations.

  • 4

    All patients exhibited gastrointestinal symptoms in infancy, with genetic testing confirming pathogenic IL10RA variants and autosomal recessive inheritance.

  • 5

    Case analyses revealed varying clinical manifestations and disease severity associated with different IL10RA mutation types.

Original Source(s)

Investigating the relationship between genotype and phenotype in three pediatric cases with IL10RA mutations and very early-onset inflammatory bowel disease

  • by Rubiao Qiu, Mengxu Zhang, Tingting Li, Yanping Liang, Yumei Wang, Songtao Xu

  • January 28, 2026

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