Daily Archives: June 9, 2018
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We would like to thank Baihui Liu, Kuiran Dong, and Rui Dong as well as Ana Savić Mlakar, Iva Hojsak, and Krešo Bendelja for their interest in our article.1 We read their letters with great interest and provide our response herein. Continue reading
Genomics Identifies XIAP Deficiency in an Adult Patient With Inflammatory Bowel Disease: The Clinical and Health Care Impact
In some patients with extreme phenotypes of inflammatory bowel disease (IBD; in particular in those with infantile or very early onset IBD with <6 years of onset, nonresponsiveness to therapy, or extraintestinal manifestations), Mendelian forms of IBD have been described.1 To identify patients with Mendelian disease-associated IBD in a cohort with age at diagnosis between 7 and 40 years of age, we screened for 59 Mendelian forms of IBD by exome sequencing across 503 patients with IBD with severe disease, as indicated by need for intestinal surgery and/or therapy progression to biologics (Supplementary Material). Continue reading
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We thank Volta et al for their interest in our recently published study.1 The authors raise relevant questions, which we address below. Continue reading