一名HIV感染者的完全CD16A缺陷与自然杀伤细胞功能缺陷
Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV.
作者信息
Zhang Weiying, Scott Alan F, Mohr David W, Ingersoll Roxann, Shoucair Peter E, Bream Jay H, Nilles Tricia L, Zhang Hao, Chen Yue, Mailliard Robbie B, Margolick Joseph B
机构信息
Department of Molecular Microbiology and Immunology, Johns Hopkins Bloomberg School of Public Health, 615 N Wolfe St., Baltimore, MD, 21205, USA.
Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
出版信息
J Clin Immunol. 2025 May 24;45(1):98. doi: 10.1007/s10875-025-01886-y.
A man living with HIV was found to lack expression of CD16A on his natural killer (NK) cells and monocytes. Genetic analysis revealed compound heterozygous deletion of FCGR3A, the gene encoding CD16A. The case's NK cells showed: (a) no antibody-dependent cell-mediated cytotoxicity and very low spontaneous cytotoxicity; (b) an immature phenotype marked by high expression of CD94, CD2, NKG2A, and NKG2D, and low expression of KIR2DL2 and CD57; (c) no expression of KIR3DL1 and very low expression of FcRγ; and (d) normal cytokine production. The case's monocytes and DCs were similar phenotypically and functionally to those from the donors matched for HIV status, age, and percentage of NK cells in the peripheral blood. In contrast to previously reported people with CD16A deficiency, this man did not have a history of severe infections with herpes viruses, suggesting that other immune cells and/or immunoregulatory function of NK cells may compensate for deficiency of cytolytic NK cells.
一名艾滋病毒感染者被发现其自然杀伤（NK）细胞和单核细胞上缺乏CD16A的表达。基因分析显示，编码CD16A的基因FCGR3A存在复合杂合缺失。该病例的NK细胞表现为：（a）无抗体依赖性细胞介导的细胞毒性，自发细胞毒性极低；（b）不成熟表型，其特征为CD94、CD2、NKG2A和NKG2D高表达，KIR2DL2和CD57低表达；（c）无KIR3DL1表达，FcRγ表达极低；（d）细胞因子产生正常。该病例的单核细胞和树突状细胞在表型和功能上与在艾滋病毒感染状态、年龄和外周血NK细胞百分比方面相匹配的供体的细胞相似。与先前报道的CD16A缺乏症患者不同，该男子没有疱疹病毒严重感染史，这表明其他免疫细胞和/或NK细胞的免疫调节功能可能补偿了细胞毒性NK细胞的缺乏。
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