Suzuki Takuji, Arumugam Paritha, Sakagami Takuro, Lachmann Nico, Chalk Claudia, Sallese Anthony, Abe Shuichi, Trapnell Cole, Carey Brenna, Moritz Thomas, Malik Punam, Lutzko Carolyn, Wood Robert E, Trapnell Bruce C
Division of Pulmonary Biology, Perinatal Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA.
Division of Experimental Hematology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA.
Nature. 2014 Oct 23;514(7523):450-4. doi: 10.1038/nature13807. Epub 2014 Oct 1.
Bone-marrow transplantation is an effective cell therapy but requires myeloablation, which increases infection risk and mortality. Recent lineage-tracing studies documenting that resident macrophage populations self-maintain independently of haematological progenitors prompted us to consider organ-targeted, cell-specific therapy. Here, using granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor-β-deficient (Csf2rb(-/-)) mice that develop a myeloid cell disorder identical to hereditary pulmonary alveolar proteinosis (hPAP) in children with CSF2RA or CSF2RB mutations, we show that pulmonary macrophage transplantation (PMT) of either wild-type or Csf2rb-gene-corrected macrophages without myeloablation was safe and well-tolerated and that one administration corrected the lung disease, secondary systemic manifestations and normalized disease-related biomarkers, and prevented disease-specific mortality. PMT-derived alveolar macrophages persisted for at least one year as did therapeutic effects. Our findings identify mechanisms regulating alveolar macrophage population size in health and disease, indicate that GM-CSF is required for phenotypic determination of alveolar macrophages, and support translation of PMT as the first specific therapy for children with hPAP.
骨髓移植是一种有效的细胞疗法,但需要进行清髓治疗,这会增加感染风险和死亡率。最近的谱系追踪研究表明,常驻巨噬细胞群体可独立于血液祖细胞进行自我维持,这促使我们考虑进行器官靶向的细胞特异性治疗。在此,我们使用粒细胞-巨噬细胞集落刺激因子(GM-CSF)受体-β缺陷(Csf2rb(-/-))小鼠,这些小鼠会发生与患有CSF2RA或CSF2RB突变的儿童遗传性肺泡蛋白沉积症(hPAP)相同的髓样细胞疾病。我们发现,野生型或经Csf2rb基因校正的巨噬细胞进行肺巨噬细胞移植(PMT),无需清髓治疗,是安全且耐受性良好的,一次给药即可纠正肺部疾病、继发性全身表现,并使疾病相关生物标志物正常化,还能预防疾病特异性死亡。PMT来源的肺泡巨噬细胞持续存在至少一年,治疗效果也是如此。我们的研究结果确定了在健康和疾病状态下调节肺泡巨噬细胞群体大小的机制,表明GM-CSF是肺泡巨噬细胞表型确定所必需的,并支持将PMT作为hPAP儿童的首个特异性治疗方法进行转化应用。