The genetic basis of pemphigus vulgaris

Dan Vodo, Eli Sprecher*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

Abstract

The severe autoimmune blistering disease pemphigus vulgaris (PV) is most probably mainly due to autoantibodies directed against desmosomal components of the epithelium, disrupting cell-cell adhesion. The precise mechanisms underlying the development of the disease are still unknown, and immunosuppressive medications such as corticosteroids, which are linked to potentially serious adverse effects, are still the mainstay of treatment. Ethnic susceptibility and familial incidence hint to a genetic component to the pathophysiology of PV, which, if identified, could further improve our understanding of PV pathogenesis and lead to the discovery of new therapeutic targets for this potentially fatal condition. In this article, we review the evidence supporting a genetic component in PV and discuss the clinical and therapeutic implications of these discoveries.

Original languageEnglish
Pages (from-to)203-212
Number of pages10
JournalJEADV Clinical Practice
Volume2
Issue number2
DOIs
StatePublished - Jun 2023

Keywords

  • HLA
  • ST18
  • genetics
  • pemphigus

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