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Consequences of identifying XIAP deficiency in an adult patient with inflammatory bowel disease

Abstract:

In some patients with extreme phenotypes of inflammatory bowel disease (IBD; in particular in those with infantile or very early onset IBD with <6 years of onset, nonresponsiveness to therapy, or extraintestinal manifestations), Mendelian forms of IBD have been described.1 To identify patients with Mendelian disease-associated IBD in a cohort with age at diagnosis between 7 and 40 years of age, we screened for 59 Mendelian forms of IBD by exome sequencing across 503 patients with IBD wi...

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Publication status:
Published
Peer review status:
Reviewed (Other)
Version:
Accepted Manuscript

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Publisher copy:
10.1053/j.gastro.2018.03.069

Authors


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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM Experimental Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM Experimental Medicine
Role:
Author
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Leona M. and Harry B. Helmsley Charitable Trust More from this funder
Crohn’s and Colitis Foundation of America More from this funder
Publisher:
Elsevier Publisher's website
Journal:
Gastroenterology Journal website
Volume:
155
Issue:
1
Pages:
231-234
Publication date:
2018-06-09
Acceptance date:
2018-06-09
DOI:
EISSN:
1528-0012
ISSN:
0016-5085
Pubs id:
pubs:857274
URN:
uri:10605693-27c2-435e-ba2f-8464167125d4
UUID:
uuid:10605693-27c2-435e-ba2f-8464167125d4
Local pid:
pubs:857274

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