A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report-Reference-Cited by-同舟云学术

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

Published:2015-11-18 Issue:1 Volume:15 Page:
ISSN:1471-230X
Container-title:BMC Gastroenterology
language:en
Short-container-title:BMC Gastroenterol

Author:

Kelsen Judith R.,Dawany Noor,Martinez Alejuandro,Grochowski Christopher M.,Maurer Kelly,Rappaport Eric,Piccoli David A.,Baldassano Robert N.,Mamula Petar,Sullivan Kathleen E.,Devoto Marcella

Funder

National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

Gastroenterology,General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12876-015-0394-z.pdf

Reference20 articles.

1. Glocker EO, Kotlarz D, Boztug K, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009;361:2033–45.

2. Glocker EO, Frede N, Perro M, et al. Infant colitis--it's in the genes. Lancet. 2010;376:1272.

3. Glocker E, Grimbacher B. Inflammatory bowel disease: is it a primary immunodeficiency? Cell Mol Life Sci. 2012;69:41–8.

4. Moran CJ, Walters TD, Guo CH, et al. IL-10R polymorphisms are associated with very-early-onset ulcerative colitis. Inflamm Bowel Dis. 2013;19:115–23.

5. Dupuis-Girod S, Medioni J, Haddad E, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics. 2003;111:e622–7.

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