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Journal article

Inflammatory bowel disease and primary immunodeficiency disorders: Clinical presentations and diagnostic work-up

Abstract:

Background

Inflammatory bowel disease (IBD) is a polygenic disorder with two major subtypes Crohn’s disease and ulcerative colitis. Genetic defects that cause primary immunodeficiencies or intestinal ephithelial barrier defects are increasingly recognized as monogenic causes of IBD.

Objectives

This leading article provides an overview about monogenic IBD, clinical presentations of patients and a diagnostic algorithm for suspected monogenic IBD.

Materials a...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted manuscript

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Files:
Publisher copy:
10.1007/s00112-017-0393-y

Authors


Schwerd, T More by this author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
NDM; NDM Experimental Medicine
Publisher:
Springer Publisher's website
Journal:
Monatsschrift fur Kinderheilkunde Journal website
Volume:
165
Issue:
12
Pages:
1092–1101
Publication date:
2017-11-10
DOI:
EISSN:
1433-0474
ISSN:
0026-9298
Pubs id:
pubs:796100
URN:
uri:4a99b268-1880-4bba-9a5b-a3314b42db9c
UUID:
uuid:4a99b268-1880-4bba-9a5b-a3314b42db9c
Local pid:
pubs:796100

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