[开放获取]    泛发性脓疱型银屑病的易感基因研究进展

doi:10.35541/cjd.20240211

中华皮肤科杂志 ›› 2026, e20240211.doi: 10.35541/cjd.20240211

[开放获取] 泛发性脓疱型银屑病的易感基因研究进展

周雨婷宋清华王文慧

北京大学第三医院皮肤科，北京 100191

收稿日期:2024-04-22 修回日期:2025-04-20 发布日期:2026-04-27
通讯作者: 王文慧 E-mail:wwh0608@126.com
基金资助:
北京自然科学基金（7232197）

Susceptibility genes of generalized pustular psoriasis

Zhou Yuting, Song Qinghua, Wang Wenhui

Department of Dermatology, Peking University Third Hospital, Beijing 100191, China

Received:2024-04-22 Revised:2025-04-20 Published:2026-04-27
Contact: Wang Wenhui E-mail:wwh0608@126.com
Supported by:
Beijing Municipal Natural Science Foundation（7232197）

摘要/Abstract

摘要： 【摘要】泛发性脓疱型银屑病（GPP）是一种严重的自身炎症性皮肤病，临床特征为弥漫性红斑基础上的无菌性小脓疱，病程迁延且死亡风险高。近年来，IL36RN、CARD14、AP1S3等基因的变异被证实与GPP密切相关，其致病机制主要涉及白细胞介素36细胞因子轴等多个炎症通路。此外，MPO、SERPINA1、SERPINA3、BTN3A3、TNIP1、TGFBR2和MEFV等基因与GPP的相关性也被陆续证实，进一步拓展了对GPP遗传机制的理解。本文旨在综述GPP相关的易感基因及其致病机制，为该病的早期诊断、靶向治疗及预后评估提供理论基础与潜在靶点。

关键词: 银屑病, 突变, 基因变异, 易感基因, 泛发性脓疱型银屑病, 发病机制

Abstract: 【Abstract】 Generalized pustular psoriasis （GPP） is a severe autoinflammatory skin disease characterized clinically by sterile pustules on a background of diffuse erythema, with a prolonged disease course and a high risk of mortality. In recent years, variants in genes such as IL36RN, CARD14, and AP1S3 have been confirmed to be closely associated with GPP, and their pathogenic mechanisms mainly involve multiple inflammatory pathways, particularly the interleukin-36 cytokine axis. In addition, associations between GPP and several other genes, including MPO, SERPINA1, SERPINA3, BTN3A3, TNIP1, TGFBR2, and MEFV, have also been gradually identified, further expanding the current understanding of the genetic basis of GPP. This article reviews susceptibility genes associated with GPP and their pathogenic mechanisms, aiming to provide a theoretical basis and potential targets for early diagnosis, targeted therapy, and prognostic evaluation of this disease.

Key words: Psoriasis, Mutation, Genetic variation, Susceptibility genes, Generalized pustular psoriasis, Pathogenesis

周雨婷宋清华王文慧. [开放获取] 泛发性脓疱型银屑病的易感基因研究进展[J]. 中华皮肤科杂志, 2026,e20240211. doi:10.35541/cjd.20240211

Zhou Yuting, Song Qinghua, Wang Wenhui. Susceptibility genes of generalized pustular psoriasis[J]. Chinese Journal of Dermatology,2026,e20240211. doi:10.35541/cjd.20240211

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Susceptibility genes of generalized pustular psoriasis

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