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Inflammatory skin and bowel disease linked to ADAM17 deletion

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Official URL:https://doi.org/10.1056/NEJMoa1100721
PubMed:View item in PubMed
Creators Name:Blaydon, D.C. and Biancheri, P. and Di, W.L. and Plagnol, V. and Cabral, R.M. and Brooke, M.A. and van Heel, D.A. and Ruschendorf, F. and Toynbee, M. and Walne, A. and O'Toole, E.A. and Martin, J.E. and Lindley, K. and Vulliamy, T. and Abrams, D.J. and MacDonald, T.T. and Harper, J.I. and Kelsell, D.P.
Journal Title:New England Journal of Medicine
Journal Abbreviation:N Engl J Med
Volume:365
Number:16
Page Range:1502-1508
Date:20 October 2011
Keywords:ADAM Proteins, Fatal Outcome, Inflammatory Bowel Diseases, Myocarditis, Pedigree, Sequence Deletion, Skin Diseases
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 {alpha} [TNF-{alpha}]-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-1{beta} and interleukin-6 but impaired release of TNF-{alpha}. Despite repeated skin infections, this young man has led a relatively normal life.
ISSN:0028-4793
Publisher:Massachusetts Medical Society (U.S.A.)
Item Type:Article

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