即使遗传缺陷相同，患有先天性免疫缺陷 (IEI) 的患者的传染病临床外显率也存在很大差异。这种变异性受到病原体暴露、医疗保健获取和宿主环境相互作用的影响。我们在这里描述了一名三十多岁的患者，由于感染弱毒力 β 乳头瘤病毒 (HPV38) 和 CD4 T 细胞淋巴细胞减少症而出现疣状表皮发育不良 (EV)。该患者是居住在美国的近亲父母所生。外显子组测序发现了一个先前未知的双等位基因 STK4 停止增益突变 (p.Trp425X)。该患者在儿童时期除皮肤上有轻度疣样病变外，没有相关传染病史，但在三十多岁时出现弥漫性大B细胞淋巴瘤（DLBCL）和低病毒载量的EBV病毒血症。尽管患者的 CD4 T 细胞计数较低，但 CD3 细胞计数正常，主要是双阴性 T 细胞 (67.4%)，结果证明是 Vδ2 γδ T 细胞。在 33 例报告的 STK4 缺陷病例中经常观察到 γδ T 细胞扩增。该 STK4 缺陷患者的 Vδ2 γδ T 细胞主要是 CD45RA-CD27 CCR7 中央记忆 γδT 细胞，它们响应 T 细胞激活而增殖的能力受损，CD4 T 细胞也是如此。总之，γδ T 细胞扩增可能作为一种对抗病毒感染的补偿机制，为免疫功能低下的个体提供免疫保护。© 2024。作者。

The clinical penetrance of infectious diseases varies considerably among patients with inborn errors of immunity (IEI), even for identical genetic defects. This variability is influenced by pathogen exposure, healthcare access and host-environment interactions. We describe here a patient in his thirties who presented with epidermodysplasia verruciformis (EV) due to infection with a weakly virulent beta-papillomavirus (HPV38) and CD4+ T-cell lymphopenia. The patient was born to consanguineous parents living in the United States. Exome sequencing identified a previously unknown biallelic STK4 stop-gain mutation (p.Trp425X). The patient had no relevant history of infectious disease during childhood other than mild wart-like lesion on the skin, but he developed diffuse large B-cell lymphoma (DLBCL) and EBV viremia with a low viral load in his thirties. Despite his low CD4+ T-cell count, the patient had normal counts of CD3+ cells, predominantly double-negative T cells (67.4%), which turned out to be Vδ2+ γδ T cells. γδ T-cell expansion has frequently been observed in the 33 reported cases with STK4 deficiency. The Vδ2 γδ T cells of this STK4-deficient patient are mostly CD45RA-CD27+CCR7+ central memory γδT cells, and their ability to proliferate in response to T-cell activation was impaired, as was that of CD4+ T cells. In conclusion, γδ T-cell expansion may act as a compensatory mechanism to combat viral infection, providing immune protection in immunocompromised individuals.© 2024. The Author(s).