Black Patients of African Descent and HLA-DRB1*15:03 Frequency Overrepresented in Epidermolysis Bullosa Acquisita
| Autor: | C. Zumelzu, Antoine Petit, Marc Busson, F. Aucouturier, Serge Doan, M. Heller, Valérie Pendaries, Dominique Charron, Christelle Le Roux-Villet, Marie-Dominique Brette, Liliane Laroche, Catherine Prost-Squarcioni, Frédéric Caux, N. Lièvre, Francis Pascal, Pascale Loiseau |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Epidermolysis bullosa acquisita medicine.medical_specialty Adolescent Population Black People Dermatology Human leukocyte antigen Epidermolysis Bullosa Acquisita Biochemistry White People Young Adult Gene Frequency parasitic diseases medicine Genetic predisposition Humans Genetic Predisposition to Disease Young adult Child education Molecular Biology Allele frequency HLA-DRB1 Retrospective Studies education.field_of_study business.industry Incidence (epidemiology) Cell Biology Middle Aged medicine.disease Surgery Child Preschool Female business HLA-DRB1 Chains |
| Zdroj: | Journal of Investigative Dermatology. 131:2386-2393 |
| ISSN: | 0022-202X |
| Popis: | Epidermolysis bullosa acquisita (EBA) is a rare autoimmune bullous disease (AIBD). However, higher EBA incidence and predisposing genetic factor(s) involving an HLA haplotype have been suspected in some populations. This retrospective study assessed the overrepresentation of black patients with EBA, its link with HLA- DRB1*15:03 , and their clinical and immunological characteristics. Between 2005 and 2009, 7/13 (54%) EBA and 6/183 (3%) other-AIBD patients seen consecutively in our department were black ( P =10 −6 ); moreover 7/13 (54%) black patients and 6/183 (3%) white patients had EBA ( P =10 −6 ). In addition, between 1983 and 2005, 12 black patients had EBA. Finally, among the 19 black EBA patients, most of them had very atypical clinical presentations, 9 were natives of sub-Saharan Africa, 1 from Reunion Island, 7 from the West Indies, and 2 were of mixed ancestry. HLA- DRB1*15:03 allelic frequencies were 50% for African patients, significantly higher than the control population ( P −3 ), and 21% for the West Indians (nonsignificant). High EBA frequencies have already been reported in American blacks significantly associated with the HLA- DR2 . In conclusion, black-skinned patients developing EBA seem to have a genetic predisposition, and EBA should be suspected systematically for every AIBD seen in this population. |
| Databáze: | OpenAIRE |
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