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.

Publication

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.

Journal Paper/Review - Jul 27, 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

Citation

Schnitzler F, Friedrich M, Angelberger M, Diegelmann J, Stallhofer J, Wolf C, Dütschler J, Truniger S, Olszak T, Beigel F, Tillack C, Lohse P, Brand S. 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 2020; 15:e0236421.

Type

Journal Paper/Review (English)

Journal

PloS one 2020; 15

Publication Date

Jul 27, 2020

Issn Electronic

1932-6203

Pages

e0236421

Brief description/objective

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.