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.

Publikation

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.

Wissenschaftlicher Artikel/Review - 27.07.2020

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

Zitation

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.

Art

Wissenschaftlicher Artikel/Review (Englisch)

Zeitschrift

PloS one 2020; 15

Veröffentlichungsdatum

27.07.2020

eISSN (Online)

1932-6203

Seiten

e0236421

Kurzbeschreibung/Zielsetzung

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.