Black Patients of African Descent and HLA-DRB1*15:03 Frequency Overrepresented in Epidermolysis Bullosa Acquisita

Abstract

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<10(-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.

B Cells, Dendritic Cells, and Macrophages Are Required To Induce an Autoreactive CD4 Helper T Cell Response in Experimental Epidermolysis Bullosa Acquisita

“…Using timerestricted depletion of certain cell subsets, this new model was applied to investigate the cellular requirements for the early stages of EBA pathogenesis. Based on the findings presented in this article and elsewhere, we propose the following model of the early EBA pathogenesis: Both human (41,42) and experimental EBA (22) are strongly associated with certain MHC alleles. In addition, genes outside the MHC locus have recently been shown to influence susceptibility to experimental EBA (43).…”

Pathogenesis of Epidermolysis Bullosa Acquisita

“…However, both data from EBA patients and animal models point toward a strong genetic infl uence of EBA susceptibility. In EBA patients, the HLA-DR2 [ 19 ] and the HLA-DRB1*15:03 [ 20 ] have been reported to be associated with disease susceptibility. Interestingly, the increased prevalence of EBA in Africans [ 20 ] and African-Americans [ 19 ] points toward a possible contribution of genes outside the MHC locus.…”

“…In EBA patients, the HLA-DR2 [ 19 ] and the HLA-DRB1*15:03 [ 20 ] have been reported to be associated with disease susceptibility. Interestingly, the increased prevalence of EBA in Africans [ 20 ] and African-Americans [ 19 ] points toward a possible contribution of genes outside the MHC locus. These fi ndings have been recently reproduced in immunization-induced EBA: Disease induction in inbred strains of mice showed a signifi cant association of susceptibility with the H2s haplotype [ 12 ].…”

Estudio retrospectivo de las características clínicas, histológicas e inmunológicas en una serie de 9 pacientes con epidermólisis ampollosa adquirida

“…Debido a la baja prevalencia no se ha podido establecer si existe predilección racial, aunque se ha documentado una mayor prevalencia en individuos de raza negra y en coreanos 12,13 . La edad de inicio suele ser entre los 40 y 50 años, aunque se han descrito casos en ancianos, en niños, así como un caso congénito por trasmisión vertical de una madre afecta 14---16 .…”