Reconstitution of B-cell ontogeny in Btk-deficient patient-derived CD34+ cells in a humanised mouse model: The foundations for an Australian XLA gene therapy trial

针对骨髓的基因治疗在治疗遗传性疾病、病毒感染和涉及血细胞的癌症方面具有广泛的治疗潜力。在这项提案中，我们计划从X连锁无丙种球蛋白血症患者身上获得骨髓细胞，并证明他们的细胞可以在试管中进行遗传修复，并在转移回专门的小鼠模型时重建免疫系统。这一结果有可能为人类临床试验奠定基础。

Gene therapy targeting the bone marrow has broad therapeutic potential in the management of genetic diseases, viral infections and cancers involving blood cells. In this proposal we plan to obtain bone marrow cells from patients with X-linked agammaglobulinaemia and show that their cells can be genetically repaired in the test tube and, when transferred back into a specialised mouse models, reconstitute the immune system. The results have the potential to underpin a human clinical trial.