CARD14 Missense Variant Underlying CARD14-Associated Papulosquamous Eruption with Beneficial Response to Secukinumab

Shangzhi Dai; Shanshan Zhang; Chenliang Wang; Xin Lin; Zhimiao Lin

doi:10.1016/j.xjidi.2022.100174

CARD14 Missense Variant Underlying CARD14-Associated Papulosquamous Eruption with Beneficial Response to Secukinumab

JID Innov. 2022 Dec 11;3(2):100174. doi: 10.1016/j.xjidi.2022.100174. eCollection 2023 Mar.

Authors

Shangzhi Dai^{1

2}, Shanshan Zhang^{1

3}, Chenliang Wang¹, Xin Lin^{1

2}, Zhimiao Lin^{2

4}

Affiliations

¹ Institute for Immunology, Tsinghua University School of Medicine, Tsinghua University-Peking University Jointed Center for Life Sciences, Beijing, China.
² Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing, China.
³ Department of Immunology, Blavatnik Institute, Harvard Medical School, Boston, Massachusetts, USA.
⁴ Dermatology Hospital, Southern Medical University, Guangzhou, China.

Abstract

CARD14-associated papulosquamous eruption is an autosomal dominant genodermatosis characterized by early-onset, generalized erythematous patches and plaques with prominent scales, mostly with facial involvement. Heterozygous gain-of-function variants in the CARD14 gene have been reported to be causative for this entity. The pathogenesis mainly involves the IL-23‒IL-17 inflammatory circuit, yet the efficacy of anti‒IL-17 treatment remained less examined. In this study, we report one previously unidentified variant underlying the CARD14-associated papulosquamous eruption and showed its gain-of-function property. Furthermore, we present the beneficial effect of anti‒IL-17A treatment in our patient.

Keywords: CAPE, CARD14-associated papulosquamous eruption.