中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (10): 710-715.doi: 10.12144/zgmfskin202610710

• 论著 • 上一篇    下一篇

STK4突变致T细胞免疫缺陷表现为泛发性寻常疣：中国首例报道

郭清清1, 2,暴芳芳1, 2,李珍1, 2,张园1, 2,初同胜1, 2,田洪青1, 2   

  1. 1山东第一医科大学附属皮肤病医院，山东济南，250022；2山东省皮肤病性病防治研究所，山东济南，250022
  • 出版日期:2026-10-15 发布日期:2026-10-09

Generalized verruca vulgaris as a manifestation of T-cell immunodeficiency due to STK4 mutation: the first Chinese case report

GUO Qingqing1,2, BAO Fangfang1,2, LI Zhen1,2, ZHANG Yuan1,2, CHU Tongsheng1,2, TIAN Hongqing1,2   

  1. 1 Dermatology Hospital of Shandong First Medical University, Jinan 250022, China; 2 Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Science, Jinan 250022, China
  • Online:2026-10-15 Published:2026-10-09

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摘要： 目的：本研究报道中国首例因STK4基因突变致T细胞免疫缺陷并以泛发性寻常疣为主要临床表现的病例，应用全外显子组测序对患者进行基因检测。方法：收集患者临床资料，提取患者外周血DNA，进行全外显子测序，并通过Sanger测序验证，结合变异类型、人群数据库、NetGene2 v.2.4剪切预测分析、有害性预测结果和既往文献评估其致病性。结果：全外显子测序结合 Sanger 验证显示，患者 STK4 基因存在两处变异：c.960+169G＞A（NM_006282.5），根据美国医学遗传学和基因组学学会（ACMG）指南、NetGene2 v.2.4等生物信息学工具剪切预测分析判定为可能致病变异；c.960+169G＞A，临床意义未明突变c.35+139dup。二者均为既往无相关报道的罕见变异。因未获取父母样本，未进行家系共分离验证。结论：本例泛发性寻常疣可能与STK4基因突变c.960+169G＞A导致的CD4+T细胞免疫缺陷有关，为国内首报病例，但该结论缺乏家系共分离验证，属推测性关联，需进一步研究。

关键词: STK4基因, T细胞免疫缺陷, 泛发性寻常疣, 人乳头瘤病毒

Abstract: Objective: This study aims to report the first Chinese case of T-cell immunodeficiency caused by STK4 gene mutation, with generalized verrucosis as the main clinical manifestation, and to perform genetic testing on the patient using whole-exome sequencing (WES). Methods: The patient's clinical data were collected, and genomic DNA was extracted from peripheral blood. WES was conducted, followed by Sanger sequencing for validation. The pathogenicity of the identified variants was evaluated by integrating variant types, population databases, pathogenicity prediction results, NetGene2 v.2.4 splicing analysis and previous literature. Results: WES combined with Sanger sequencing validation revealed two rare heterozygous variants in the patient's STK4 gene, c.960+169G＞A (NM_006282.5), classified as likely pathogenic (PP3+PP4) based on ACMG guidelines and splicing prediction using NetGene2 v.2.4, HSF v.3.1, SpliceAI, and MaxEntScan; c.35+139dup, classified as a variant of uncertain significance (VUS). Segregation analysis was not performed due to unavailability of parental samples. Conclusion: Generalized verruca vulgaris in this case may be associated with CD4+ T-cell immunodeficiency caused by the STK4 gene mutation c.960+169G＞A. This is the first reported case in China. However, this conclusion lacks familial co-segregation validation and represents a speculative association; further studies are required.

Key words: STK4 gene, T-cell immunodeficiency, generalized verrucosis, HPV