Damaging Alleles Affecting Multiple CARD14 Domains Are Associated with Palmoplantar Pustulosis

Abstract

Palmoplantar pustulosis (PPP) is a severe pustular eruption that affects the palms and/or soles, with detrimental effects on quality of life. The disease is notoriously difficult to treat because its immune and genetic determinants remain poorly defined (Twelves et al., 2019). Although mutations of the IL36RN and myeloperoxidase MPO genes have been convincingly associated with generalized pustular psoriasis, they are rarely found in patients with PPP (Haskamp et al., 2020; Twelves et al., 2019; Vergnano et al., 2020).