Article
Development of a uniform, very aggressive disease phenotype in all homozygous carriers of the NOD2 mutation p.Leu1007fsX1008 with Crohn's disease and active smoking status resulting in ileal stenosis requiring surgery.
PloS one - 1 Jan 2020
Schnitzler Fabian, Friedrich Matthias, Angelberger Marianne, Diegelmann Julia, Stallhofer Johannes, Wolf Christiane, Dütschler Joel, Truniger Samuel, Olszak Torsten, Beigel Florian, Tillack Cornelia, Lohse Peter, Brand Stephan
Abstract excerpt
BACKGROUND: NOD2 variants are the strongest genetic predictors for susceptibility to Crohn's disease (CD). However, the clinical value of NOD2 on an individual patient level remains controversial. We aimed to define the predictive power of the major NOD2 mutations regarding complicated CD in a large single center cohort. METHODS: 1076 CD patients were prospectively genotyped for the three common CD-associated...
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