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Article

The diagnostic approach to monogenic very early onset inflammatory bowel disease.

Gastroenterology - 1 Nov 2014

Uhlig Holm H, Schwerd Tobias, Koletzko Sibylle, Shah Neil, Kammermeier Jochen, Elkadri Abdul, Ouahed Jodie, Wilson David C, Travis Simon P, Turner Dan, Klein Christoph, Snapper Scott B, Muise Aleixo M

Abstract excerpt

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...

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Identifiers

PMID: 25058236
DOI: 10.1053/j.gastro.2014.07.023
PMCID: PMC5376484

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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