Taunton and Somerset NHS Foundation Trust, Taunton, United Kingdom.
School of Medicine and Biological Sciences Research Complex, University of St. Andrews, St. Andrews, Scotland.
Front Immunol. 2019 Jul 19;10:1703. doi: 10.3389/fimmu.2019.01703. eCollection 2019.
Natural killer cell deficiency (NKD) is a primary immunodeficiency where the main defect lies in CD56CD3 natural killer (NK) cells which mediate cytotoxicity against tumors. Most cases are observed in children and adolescents with recurrent viral infections and cancer. and mutations are found in NKD patients with cancer. However, the question remains unclear whether NKD increases the risk of cancer. Mutations in the second zinc finger of cause both NKD and haematopoietic malignancies. splice site mutations are found in NKD patients and they increase susceptibility to DNA instability during replication. , and mutations are associated with NKD but their associations with cancer are unknown. Based on the studies, it is hypothesized that genetic mutations alone are sufficient to cause cancer. However, a number of NKD patients developed oncogenic viral infections which progressed into cancer. Here, we review the evidence of genetic mutations responsible for both NKD and cancer to identify whether NKD contributes to development of cancer. The findings provide insights into the role of NK cells in the prevention of cancer and the significance of assessing NK cell functions in susceptible individuals.
自然杀伤细胞缺陷症（NKD）是一种原发性免疫缺陷病，主要缺陷在于介导细胞毒性作用以对抗肿瘤的 CD56CD3 自然杀伤（NK）细胞。大多数病例发生于反复发生病毒感染和癌症的儿童和青少年中。NKD 患者中发现有 和 突变与癌症有关。然而，NKD 是否会增加癌症风险的问题仍不清楚。 的第二个锌指中的突变会导致 NKD 和造血系统恶性肿瘤。在 NKD 患者中发现了 剪接位点突变，它们会增加在复制过程中 DNA 不稳定性的易感性。 和 突变与 NKD 相关，但与癌症的关联尚不清楚。基于这些研究，有人假设遗传突变本身足以导致癌症。然而，许多 NKD 患者发生了致癌性病毒感染，进而发展为癌症。在这里，我们回顾了导致 NKD 和癌症的遗传突变的证据，以确定 NKD 是否有助于癌症的发生。这些发现为 NK 细胞在预防癌症中的作用以及在易感个体中评估 NK 细胞功能的重要性提供了深入了解。
