Inflammatory skin and bowel disease linked to ADAM17 deletion

N Engl J Med. 2011 Oct 20;365(16):1502-8. doi: 10.1056/NEJMoa1100721.

Diana C Blaydon ¹, Paolo Biancheri, Wei-Li Di, Vincent Plagnol, Rita M Cabral, Matthew A Brooke, David A van Heel, Franz Ruschendorf, Mark Toynbee, Amanda Walne, Edel A O'Toole, Joanne E Martin, Keith Lindley, Tom Vulliamy, Dominic J Abrams, Thomas T MacDonald, John I Harper, David P Kelsell

Affiliations

Affiliation

1 Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

PMID: 22010916 DOI: 10.1056/NEJMoa1100721

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.).

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