The genetics of Pemphigus vulgaris

Dan Vodo*, Ofer Sarig, Eli Sprecher

*Corresponding author for this work

Research output: Contribution to journalShort surveypeer-review


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.

Original languageEnglish
Article number226
JournalFrontiers in Medicine
Issue numberAUG
StatePublished - 2018


  • Autoimmunity
  • Blistering disorders
  • Genetics
  • HLA
  • Pemphigus


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