Inflammatory skin and bowel disease linked to ADAM17 deletion

Blaydon, Diana C, Biancheri, Paolo, Di, Wei-Li, Plagnol, Vincent, Cabral, Rita M, Brooke, Matthew A, van Heel, David A, Ruschendorf, Franz, Toynbee, Mark, Walne, Amanda, O'Toole, Edel A, Martin, Joanne E, Lindley, Keith, Vulliamy, Tom, Abrams, Dominic J, MacDonald, Thomas T, Harper, John I and Kelsell, David P (2011) Inflammatory skin and bowel disease linked to ADAM17 deletion. New England Journal of Medicine, 365 (16). pp. 1502-1508. ISSN 0028-4793

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Abstract

We performed genetic and immunohistochemical studies in a sister and brother with autosomal recessive neonatal inflammatory skin and bowel lesions. The girl died suddenly at 12 years of age from parvovirus B19-associated myocarditis; her brother had mild cardiomyopathy. We identified a loss-of-function mutation in ADAM17, which encodes a disintegrin and metalloproteinase 17 (also called tumor necrosis factor α [TNF-α]-converting enzyme, or TACE), as the probable cause of this syndrome. Peripheral-blood mononuclear cells (PBMCs) obtained from the brother at 17 years of age showed high levels of lipopolysaccharide-induced production of interleukin-1β and interleukin-6 but impaired release of TNF-α. Despite repeated skin infections, this young man has led a relatively normal life. (Funded by Barts and the London Charity and the European Commission Seventh Framework Programme.).

Item Type: Article
Uncontrolled Keywords: genetics,adam17 protein,adolescent,child,fatal outcome,female,humans,genetics,male,genetics,pedigree,sequence deletion,genetics
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
University of East Anglia > Faculty of Medicine and Health Sciences > Research Groups > Gastroenterology and Gut Biology
Depositing User: LivePure Connector
Date Deposited: 07 Aug 2018 17:30
Last Modified: 07 Aug 2018 20:30
URI: https://ueaeprints.uea.ac.uk/id/eprint/67988
DOI: 10.1056/NEJMoa1100721

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