Programmed cell death-1 rs2227981 polymorphism in patients with autoimmune skin blistering disorders: A pilot study

Mutations of the PD-1 gene affect immune checkpoint function and influence the development of autoimmune disorders. Pemphigus and bullous pemphigoid are cutaneous autoimmune blistering disorders that can be triggered by several medications, including PD-1 immune checkpoint inhibitors. The onset of blistering skin disorders and other immune-related adverse events associated with anti-PD-1 immunotherapy supports the role of the PD-1 pathway in the development of autoimmunity. The rs2227981 single nucleotide polymorphism of the PD-1 gene has been investigated in cancer and autoimmune disorders but its relationship with autoimmune skin blistering disorders has not been previously explored.