SERPINB3, Adult-Onset Immunodeficiency, and Generalized Pustular Psoriasis

Abstract

Genetic variants in <i>SERPINB3</i> are associated with GPP and AOID with pustular skin reaction. The skin of patients with GPP and AOID carrying <i>SERPINB3</i> mutations showed overexpression of SERPINB3 and SERPINA1. Clinically and genetically, GPP and AOID appear to share pathogenetic mechanisms.