Clinical Characteristics of CARD14-Associated Papulosquamous Eruption and Evaluation of Therapeutic Efficacy of Secukinumab.

IF 4.2 2区医学 Q2 IMMUNOLOGY

Journal of Inflammation Research Pub Date : 2025-05-23 eCollection Date: 2025-01-01 DOI:10.2147/JIR.S519554

Xinrong Zhao, Zhaoyang Wang, Yunliu Chen, Xin Xiang, Yuanxiang Liu, Chaoyang Miao, Zigang Xu

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Abstract

Background: CARD14-associated papulosquamous eruption (CAPE) is a spectrum of disease exhibited by patients with CARD14 mutations, which are rare and have a wide variety of clinical manifestations. Patients usually have limited response to traditional therapies.

Methods: We retrospectively analyzed a case series of 8 patients with CAPE in China. Whole-exome sequencing (WES) was performed in all patients to identify the mutation type. Three patients received the treatment of secukinumab with a 52-week follow-up period. They achieved 84.6%, 76.9%, and 68.8% improvement in PASI score, respectively.

Results: The study identified three new variants in CARD14 that had not been previously reported: c.392_397del, c.391_392delinsTT, and c.-280C>T. Three patients with different clinical manifestations showed good response to secukinumab.

Conclusion: The mutation types in CARD14-associated papulosquamous eruption were various. IL-17A inhibitors, such as secukinumab, can be an alternative treatment option for pediatric patients with CAPE.

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card14相关丘疹鳞状疹的临床特点及Secukinumab治疗效果评价

背景：CARD14相关丘疹鳞状喷发（CAPE）是由CARD14突变患者表现出的一种疾病谱系，这种疾病很少见，临床表现多种多样。患者对传统疗法的反应通常有限。方法：回顾性分析中国8例CAPE患者的病例系列。对所有患者进行全外显子组测序（WES）以确定突变类型。3例患者接受了secukinumab治疗，随访52周。PASI评分分别提高84.6%、76.9%和68.8%。结果：该研究确定了CARD14的三个以前未报道的新变体：c.392_397del, c.391_392delinsTT和c.-280C >t。3例不同临床表现的患者对secukinumab反应良好。结论：card14相关丘疹鳞状喷发的突变类型多种多样。IL-17A抑制剂，如secukinumab，可以作为儿科CAPE患者的替代治疗选择。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Inflammation Research Immunology and Microbiology-Immunology

CiteScore

6.10

自引率

2.20%

发文量

658

审稿时长

16 weeks

期刊介绍： An international, peer-reviewed, open access, online journal that welcomes laboratory and clinical findings on the molecular basis, cell biology and pharmacology of inflammation.