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Abstract

Pemphigus vulgaris is a rare autoimmune blistering disease highly associated with certain HLA haplotypes and antibodies against desmoglein 1 and 3 leading to a disruption of the barrier function of the skin. Little is known about the factor(s) that trigger autoantibody production, and subsequently, lesions formation, in genetically susceptible individuals. Here, we aim to study differences in the skin microbiota of pemphigus vulgaris patients and first degree relatives. Ten families with at least three first degree relatives of German ancestry (n=47) were identified. From all patients and family members, blood was drawn for serology and DNA extraction and skin swabs were taken from five different body locations with different microenvironment. Nine of the clinically healthy first degree relatives had anti‐Dsg3 IgG1 reactivity as determined by a modified ELISA (Euroimmun). Skin swabs were then processed for microbial DNA extraction and 16S rRNA gene sequencing (V1‐V2 region) using the MiSeq Illumina platform. Taxonomic composition was found to be site specific between the selected sample locations. However, significant differences in diversity (alpha and beta) between patients and controls were only found for leg samples (P<.05). Potential family effects on the results could be ruled out using linear mixed effect modeling. Furthermore, three potential indicators showing significantly higher abundance in pemphigus vulgaris patients were identified (belonging to genera Staphylococcus, Dermabacter and Corynebacterium). We were able to show that the microbiome is influenced by pemphigus vulgaris. However, the effect of the disease on the microbiota is rather small and the results from this study should be verified using a larger cohort study.