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Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis


SMI members, Janneke Samsom together with Nadine Cerf-Bensussan lead a study on a pediatric IBD case arising from a de novo chromosomal duplication. The duplicated region included the gene for the low-affinity IL-2 receptor, IL2RA, also known as CD25, resulting in disrupted T cell populations and diseased colonic tissue.

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  • Inflammatory Bowel