Lilly Research Laboratories, Eli Lilly and Company, Indianapolis, IN, United States.
Prevail Therapeutics, a wholly owned subsidiary of Eli Lilly, New York, NY, United States.
Front Immunol. 2024 Jun 28;15:1354055. doi: 10.3389/fimmu.2024.1354055. eCollection 2024.
Recombinant adeno-associated virus (AAV) vectors have emerged as the preferred platform for gene therapy of rare human diseases. Despite the clinical promise, host immune responses to AAV vectors and transgene remain a major barrier to the development of successful AAV-based human gene therapies. Here, we assessed the human innate immune response to AAV9, the preferred serotype for AAV-mediated gene therapy of the CNS. We showed that AAV9 induced type I interferon (IFN) and IL-6 responses in human blood from healthy donors. This innate response was replicated with AAV6, required full viral particles, but was not observed in every donor. Depleting CpG motifs from the AAV transgene or inhibiting TLR9 signaling reduced type I IFN response to AAV9 in responding donors, highlighting the importance of TLR9-mediated DNA sensing for the innate response to AAV9. Remarkably, we further demonstrated that only seropositive donors with preexisting antibodies to AAV9 capsid mounted an innate immune response to AAV9 in human whole blood and that anti-AAV9 antibodies were necessary and sufficient to promote type I IFN release and plasmacytoid dendritic (pDC) cell activation in response to AAV9. Thus, our study reveals a previously unidentified requirement for AAV preexisting antibodies for TLR9-mediated type I IFN response to AAV9 in human blood.
重组腺相关病毒 (AAV) 载体已成为治疗罕见人类疾病的基因治疗的首选平台。尽管具有临床应用前景,但机体对 AAV 载体和转基因的免疫反应仍然是成功开发基于 AAV 的人类基因治疗的主要障碍。在这里,我们评估了人类对 AAV9 的固有免疫反应,AAV9 是 CNS 中 AAV 介导基因治疗的首选血清型。我们发现 AAV9 可诱导健康供体的人血液中产生 I 型干扰素 (IFN) 和 IL-6 反应。这种先天反应可被 AAV6 复制,需要完整的病毒颗粒,但并非每个供体中都观察到。从 AAV 转基因中去除 CpG 基序或抑制 TLR9 信号通路可降低对 AAV9 有反应的供体中的 I 型 IFN 反应,这突出了 TLR9 介导的 DNA 感应在 AAV9 先天反应中的重要性。值得注意的是,我们进一步证明,只有对 AAV9 衣壳具有预先存在的抗体的血清阳性供体才能在人全血中对 AAV9 产生固有免疫反应,并且抗 AAV9 抗体是促进 AAV9 诱导的 I 型 IFN 释放和浆细胞样树突状 (pDC) 细胞激活所必需和充分的。因此,我们的研究揭示了先前未知的 TLR9 介导的对 AAV9 的 I 型 IFN 反应在人类血液中需要 AAV 预先存在的抗体的要求。