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Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion
Open accessAbstract
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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Metadata
- Authors
- 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., & Kelsell, D. P.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2011-10-20
- Volume
- 365
- Issue
- 16
- Pages
- 1502-1508
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W1970535801
- Cited by
- 308
- References
- 0
- FWCI
- 8.71
- Type
- journal article
- Language
- en
- Open access
- bronze
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- The paper
- 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., & Kelsell, D. P. (2011). Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion. New England Journal of Medicine. https://doi.org/10.1056/nejmoa1100721
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
