Hemidesmosome Mutations Contribute to the Onset and Severity of Acquired Autoimmune Bullous Diseases.

ABSTRACT: Hemidesmosomes are structures that anchor junctions between basal epithelial cells and the basement membrane, essential for skin integrity. Genetic mutation of hemidesmosomes was well documented for the inherited bullous disorder, but is rarely investigated for acquired bullous disorders. We designed a 16-gene targeted capture panel and sequenced 202 patients with hemidesmosomes-related acquired disorders and 123 healthy controls, identifying 114 pathogenic variants in 15 genes, including 20.2% novel variants. Clinical relevance (disease severity and outcome) and immunohistochemistry results demonstrated that ITGA6, LAMC2, and EPPK1 mutations significantly affected the expression of hemidesmosome-related proteins, compared with controls with non-carriers. Functional studies in Caenorhab

SUBMITTER: Cao S 

PROVIDER: S-EPMC12906664 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature