The Genetics of Pemphigus Vulgaris

Frontiers in Medicine
Dan VodoEli Sprecher

Abstract

Pemphigus vulgaris (PV) is a severe autoimmune blistering disease caused by auto-antibodies (auto-Abs) directed against epithelial desmosomal components and leading to disruption of cell-cell adhesion. The exact mechanisms underlying the disease pathogenesis remain unknown and treatment is still based on immunosuppressive drugs, such as corticosteroids, which are associated with potentially significant side effects. Ethnic susceptibility, familial occurrence, and autoimmune comorbidity, suggest a genetic component to the pathogenesis of the disease, which, if discovered, could advance our understanding of PV pathogenesis and thereby point to novel therapeutic targets for this life-threatening disorder. In this article, we review the evidence for a genetic basis of PV, summarize the different approaches used to investigate susceptibility traits for the disease and describe past and recent discoveries regarding genes associated with PV, most of which belong to the human leukocyte antigen (HLA) locus with limited data regarding association of non-HLA genes with the disease.

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Citations

Apr 2, 2019·The British Journal of Dermatology·S Geller
Jul 26, 2019·International Journal of Immunogenetics·HamidReza MahmoudiSoheil Tavakolpour
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Nov 22, 2019·Frontiers in Immunology·Michael OlbrichAnke Fähnrich
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May 18, 2021·The British Journal of Dermatology·T Hashimoto
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Jul 6, 2021·Frontiers in Immunology·C ZografouP Stathopoulos
Aug 27, 2021·Frontiers in Medicine·Thomas Schmitt, Jens Waschke

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Methods Mentioned

BETA
exome sequencing

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