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Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Abstract:

Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient w...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41467-019-14275-y

Authors


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Role:
Author
ORCID:
0000-0002-7256-9752
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Name:
Wellcome Trust
Grant:
102974/Z/13/Z
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Name:
National Institute for Health Research
Grant:
NIHR-RP-R3-12-026
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Name:
Medical Research Council
Grant:
MR/S036377/1
Publisher:
Nature Research
Journal:
Nature Communications More from this journal
Volume:
11
Issue:
1
Article number:
995
Publication date:
2020-02-21
Acceptance date:
2019-12-20
DOI:
EISSN:
2041-1723
Pmid:
32081864
Language:
English
Keywords:
Pubs id:
1089228
Local pid:
pubs:1089228
Deposit date:
2020-05-31

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