Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion

被引：253

作者：

Blaydon, Diana C.

Biancheri, Paolo

Di, Wei-Li ^{[3
]}

Plagnol, Vincent ^{[5
]}

Cabral, Rita M.

Brooke, Matthew A.

van Heel, David A.

Ruschendorf, Franz ^{[6
]}

Toynbee, Mark

Walne, Amanda

O'Toole, Edel A.

Martin, Joanne E.

Lindley, Keith ^{[4
]}

Vulliamy, Tom

Abrams, Dominic J. ^{[2
]}

MacDonald, Thomas T.

Harper, John I. ^{[3
]}

Kelsell, David P. ^{[1
]}

机构：

[1] Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Cutaneous Res, London E1 2AT, England

[2] Queen Mary Univ London, St Bartholomews Hosp, Barts & London Natl Hlth Serv Trust, Cardiol Res Dept, London, England

[3] UCL, Inst Child Hlth, Dept Paediat Dermatol, London, England

[4] UCL, Inst Child Hlth, Dept Gastroenterol, London, England

[5] UCL Genet Inst, London, England

[6] Max Delbruck Ctr Mol Med, Dept Funct Genet & Genom, Berlin, Germany

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2011年 / 365卷 / 16期

关键词：

NECROSIS-FACTOR-ALPHA; MICE; GENE; DESMOGLEIN-2; CARDIOMYOPATHY; EXPRESSION; MUTATIONS; HAIR;

D O I：

10.1056/NEJMoa1100721

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

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.)

引用

页码：1502 / 1508

页数：7

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