Novel SLC10A2 variants induce primary bile acid malabsorption and dysbiosis with IBD-like features

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ID: 320577
2026
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Abstract
Lay summary We describe biochemically and functionally validated primary bile acid malabsorption caused by novel biallelic SLC10A2 variants in a child initially diagnosed with Crohn’s disease. Pediatric IBD cohort reanalysis identified PBAM-compatible genotypes, supporting selective testing when clinical features are suggestive.
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Authors Casey R. Johnson, Lily Gillette, Qurbonali Qurbonov, Abigail Plone, Stefanie S. Schmieder, Michael Anderson, Katie Cibelli, Yanjia J. Zhang, Krishnan Raghunathan, Michael Field, Alka Goyal, Stacy A. Kahn, Scott B. Snapper, Jocelyn A. Silvester, Jay R. Thiagarajah
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Journal inflammatory bowel diseases
Year 2026
DOI
10.1093/ibd/izag137
URL
https://doi.org/10.1093/ibd/izag137
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