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The diagnostic approach to monogenic very early onset inflammatory bowel disease

Abstract:

Patients with a diverse spectrum of rare genetic disorders can present with inflammatory bowel disease (monogenic IBD). Patients with these disorders often develop symptoms during infancy or early childhood, along with endoscopic or histological features of Crohn's disease, ulcerative colitis, or IBD unclassified. Defects in interleukin-10 signaling have a Mendelian inheritance pattern with complete penetrance of intestinal inflammation. Several genetic defects that disturb intestinal epithel...

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Publication status:
Published
Peer review status:
Peer reviewed

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, Experimental Medicine Division
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, Experimental Medicine Division
Koletzko, S More by this author
Kammermeier, J More by this author
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Publisher:
Elsevier Publisher's website
Journal:
Gastroenterology Journal website
Volume:
147
Issue:
5
Pages:
990-1007
Publication date:
2014
DOI:
EISSN:
1528-0012
ISSN:
0016-5085
URN:
uuid:437868fb-09f8-4cf9-ad11-e919804bf814
Source identifiers:
489212
Local pid:
pubs:489212

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