Title |
Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa
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Published in |
Orphanet Journal of Rare Diseases, September 2013
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DOI | 10.1186/1750-1172-8-132 |
Pubmed ID | |
Authors |
Marilina Tampoia, Domenico Bonamonte, Angela Filoni, Lucrezia Garofalo, Maria Grazia Morgese, Luigia Brunetti, Chiara Di Giorgio, Giuseppina Annicchiarico |
Abstract |
Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived from mutations in the type VII collagen gene (COL7A1), encoding a protein which is the predominant component of the anchoring fibrils at the dermal-epidermal junction.For the first time in literature, we have evaluated the presence of anti-skin autoantibodies in a wider cohort of patients suffering from inherited EB and ascertained whether they may be a marker of disease activity. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 33% |
Mexico | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
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Scientists | 1 | 33% |
Mendeley readers
Geographical breakdown
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United States | 1 | 4% |
Unknown | 23 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Doctoral Student | 2 | 8% |
Student > Bachelor | 2 | 8% |
Student > Ph. D. Student | 2 | 8% |
Professor | 2 | 8% |
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Unknown | 7 | 29% |
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Immunology and Microbiology | 1 | 4% |
Other | 2 | 8% |
Unknown | 7 | 29% |