Blaydon, DC; Biancheri, P; Di, WL; Plagnol, V; Cabral, RM; Brooke, MA; ... Kelsell, DP; + view all Blaydon, DC; Biancheri, P; Di, WL; Plagnol, V; Cabral, RM; Brooke, MA; van Heel, DA; Ruschendorf, F; Toynbee, M; Walne, A; O'Toole, EA; Martin, JE; Lindley, K; Vulliamy, T; Abrams, DJ; MacDonald, TT; Harper, JI; Kelsell, DP; - view fewer (2011) Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion. NEW ENGL J MED , 365 (16) 1502 - 1508.
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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.)
|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|
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