Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.

doi:10.1053/j.gastro.2015.07.006

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Article

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.

Gastroenterology - 1 Nov 2015

Kelsen Judith R, Dawany Noor, Moran Christopher J, Petersen Britt-Sabina, Sarmady Mahdi, Sasson Ariella, Pauly-Hubbard Helen, Martinez Alejandro, Maurer Kelly, Soong Joanne, Rappaport Eric, Franke Andre, Keller Andreas, Winter Harland S, Mamula Petar, Piccoli David, Artis David, Sonnenberg Gregory F, Daly Mark, Sullivan Kathleen E, Baldassano Robert N, Devoto Marcella

Abstract excerpt

BACKGROUND & AIMS: Very early onset inflammatory bowel disease (VEO-IBD), IBD diagnosed at 5 years of age or younger, frequently presents with a different and more severe phenotype than older-onset IBD. We investigated whether patients with VEO-IBD carry rare or novel variants in genes associated with immunodeficiencies that might contribute to disease development. METHODS: Patients with VEO-IBD and parents (when...

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PMID: 26193622
DOI: 10.1053/j.gastro.2015.07.006
PMCID: PMC4853027

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MSH5

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