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| Item Type: | Article |
|---|---|
| Title: | Inflammatory skin and bowel disease linked to ADAM17 deletion |
| Creators Name: | Blaydon, D.C., Biancheri, P., Di, W.L., Plagnol, V., Cabral, R.M., Brooke, M.A., van Heel, D.A., Ruschendorf, F., Toynbee, M., Walne, A., O'Toole, E.A., Martin, J.E., Lindley, K., Vulliamy, T., Abrams, D.J., MacDonald, T.T., Harper, J.I. and Kelsell, D.P. |
| 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. |
| Keywords: | ADAM Proteins, Fatal Outcome, Inflammatory Bowel Diseases, Myocarditis, Pedigree, Sequence Deletion, Skin Diseases |
| Source: | New England Journal of Medicine |
| ISSN: | 0028-4793 |
| Publisher: | Massachusetts Medical Society |
| Volume: | 365 |
| Number: | 16 |
| Page Range: | 1502-1508 |
| Date: | 20 October 2011 |
| Official Publication: | https://doi.org/10.1056/NEJMoa1100721 |
| PubMed: | View item in PubMed |
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