Article
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
Nature communications - 21 Feb 2020
Serra Eva Gonçalves, Schwerd Tobias, Moutsianas Loukas, Cavounidis Athena, Fachal Laura, Pandey Sumeet, Kammermeier Jochen, Croft Nicholas M, Posovszky Carsten, Rodrigues Astor, Russell Richard K, Barakat Farah, Auth Marcus K H, Heuschkel Robert, Zilbauer Matthias, Fyderek Krzysztof, Braegger Christian, Travis Simon P, Satsangi Jack, Parkes Miles, Thapar Nikhil, Ferry Helen, Matte Julie C, Gilmour Kimberly C, Wedrychowicz Andrzej, Sullivan Peter, Moore Carmel, Sambrook Jennifer, Ouwehand Willem, Roberts David, Danesh John, Baeumler Toni A, Fulga Tudor A, Carrami Eli M, Ahmed Ahmed, Wilson Rachel, Barrett Jeffrey C, Elkadri Abdul, Griffiths Anne M, Snapper Scott B, Shah Neil, Muise Aleixo M, Wilson David C, Uhlig Holm H, Anderson Carl A
Abstract excerpt
Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences...
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