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

Units
PubMed
Doi
Contact

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.