Blaydon, DC and Biancheri, P and Di, WL and Plagnol, V and Cabral, RM and Brooke, MA and van Heel, DA and Ruschendorf, F and Toynbee, M and Walne, A and O'Toole, EA and Martin, JE and Lindley, K and Vulliamy, T and Abrams, DJ and MacDonald, TT and Harper, JI and Kelsell, DP (2011) Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion. NEW ENGL J MED , 365 (16) 1502 - 1508.
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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 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. (Funded by Barts and the London Charity and the European Commission Seventh Framework Programme.)
| Type: | Article |
|---|---|
| Title: | Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion |
| Keywords: | NECROSIS-FACTOR-ALPHA, MICE, GENE, DESMOGLEIN-2, CARDIOMYOPATHY, EXPRESSION, MUTATIONS, HAIR |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Infection and Immunity > ICH - Immunobiology Unit |
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