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Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion

by Kelsell, David P , O'Toole, Edel A , Lindley, Keith , Ruschendorf, Franz , Di, Wei-Li , Plagnol, Vincent , Abrams, Dominic J , Brooke, Matthew A , MacDonald, Thomas T , Toynbee, Mark , Biancheri, Paolo , Walne, Amanda , Vulliamy, Tom , Blaydon, Diana C , Martin, Joanne E , Cabral, Rita M , Harper, John I , van Heel, David A

in ADAM protein / ADAM Proteins - genetics / ADAM17 Protein / Adolescent / Biological and medical sciences / Biopsy / Bowel disease / Cardiomyopathy / Child / Chronic illnesses / Clonal deletion / Cytokines / Diarrhea / Enzymes / Families & family life / Fatal Outcome / Female / Gastroenterology. Liver. Pancreas. Abdomen / General aspects / Heart diseases / Humans / Infections / Inflammatory Bowel Diseases - genetics / Interleukin 6 / Intestine / Leukocytes (mononuclear) / Lipopolysaccharides / Male / Medical sciences / Mutation / Myocarditis / Myocarditis - genetics / Myocarditis - virology / Neonates / Other diseases. Semiology / Parvoviruses / Pedigree / Peripheral blood / Protein expression / Proteins / Psoriasis / Sequence Deletion / Siblings / Skin diseases / Skin Diseases - genetics / Small intestine / Stomach. Duodenum. Small intestine. Colon. Rectum. Anus / Tumor necrosis factor-α

2011

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Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion

2011

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Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion

2011

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Journal Article

Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion

Kelsell, David P,

O'Toole, Edel A,

Lindley, Keith,

Ruschendorf, Franz,

Di, Wei-Li,

Plagnol, Vincent,

Abrams, Dominic J,

Brooke, Matthew A,

MacDonald, Thomas T,

Toynbee, Mark,

Biancheri, Paolo,

Walne, Amanda,

Vulliamy, Tom,

Blaydon, Diana C,

Martin, Joanne E,

Cabral, Rita M,

Harper, John I,

van Heel, David A

2011

Overview

A mutation that abrogates the function of ADAM17, an enzyme that cleaves cell-surface proteins such as tumor necrosis factor α, was found to be associated with inflammatory skin and bowel disease in a pair of siblings. Inflammatory disorders of the skin and gut, including eczema, psoriasis, and celiac disease, have been linked to changes in barrier function and immune responses, by means of genetic and functional studies. Large case–control studies combined with genomewide association studies have identified common genetic risk factors, with low penetrance, for a plethora of human disorders. Such studies have also identified numerous single-nucleotide polymorphisms (SNPs) in genes linked to the regulation of immunity and inflammation affecting epithelial tissues. 1 , 2 High-throughput sequence technology can be used to identify rare but penetrant disease-associated mutations in affected members of families with mendelian conditions. 3 – 6 We . . .

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Publisher

Massachusetts Medical Society

Subject

ADAM protein

/ ADAM Proteins - genetics

/ ADAM17 Protein

/ Adolescent

/ Biological and medical sciences

/ Biopsy

/ Bowel disease