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