Healthy Individuals Genetically At-Risk for the Development of Pemphigus Vulgaris or Alopecia Areata Share Disease-Like Cytokine Dysregulation

The study investigates cytokine dysregulation in autoimmune diseases, specifically Pemphigus vulgaris (PV) and Alopecia areata (AA), revealing that healthy individuals genetically predisposed to these conditions exhibit similar immune dysregulation patterns as affected patients. In AA, healthy relatives of patients show Th1 and Th17 pathway dysregulation, while in PV, both patients and healthy individuals with PV-associated HLA alleles display activation of pro-inflammatory cytokines, Th17, Th2 pathways, and IL-8. This suggests that genetic background influences cytokine expression, and there may be protective mechanisms in genetically predisposed individuals that prevent disease onset, supporting the idea of shared genetic factors across autoimmune diseases.