25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS

Volume: 154, Issue: 1, Pages: S40 - S41
Published: Jan 1, 2018
Abstract
Very early-onset inflammatory bowel disease (VEO-IBD), defined by the onset of IBD before 6 years of age, is often associated with more severe and extensive disease than IBD in older patients. Some VEO-IBD cases have been linked to mutations in primary immunodeficiency genes, which regulate immunity and hyperinflammatory pathways, however the underlying pathophysiological mechanisms are still poorly understood. Here we describe eight patients...
Paper Details
Title
25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS
Published Date
Jan 1, 2018
Volume
154
Issue
1
Pages
S40 - S41
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