Stem Cells Center, Vietnam National Children's Hospital, Hanoi, Vietnam.
Pathophysiology and Immunology Department, Hanoi Medical University, Hanoi, Vietnam.
Front Immunol. 2023 Apr 20;14:1134852. doi: 10.3389/fimmu.2023.1134852. eCollection 2023.
Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI) disorder that results from defects in the respiratory burst activity in phagocytes, leading to the inability to kill bacterial and fungal microorganisms. CGD patients usually have a high incidence of morbidity such as infections and autoinflammatory diseases and a high mortality rate. Allogeneic bone marrow transplantation (BMT) is the only definitive cure for patients who suffer from CGD.
We report the first transplant case of chronic granulomatous disease in Vietnam. A 25-month-old boy with X-linked CGD underwent bone marrow transplantation from his 5-year-old, full-matched human leukocyte antigen (HLA)-carrier sibling after myeloablative conditioning regimen with busulfan 5.1 mg/kg/day for 4 days, fludarabine 30 mg/m/day for 5 days, and rATG (Grafalon-Fresenius) 10 mg/kg/day for 4 days. Neutrophil was engrafted on day 13 posttransplant, donor chimerism was 100% on day 30 with the dihydrorhodamine-1,2,3 (DHR 123) flow cytometric assay test that reached 38% of the normal 45 days posttransplant. Five months after transplant, the patient was free of infection with stable DHR 123 assay at 37%, and donor chimerism remained 100%. No sign of a graft-versus-host disease had been observed posttransplant.
We suggest that bone marrow transplantation is a safe and effectual cure for CGD patients, especially for patients with HLA-identical siblings.
慢性肉芽肿病（CGD）是一种先天免疫缺陷（IEI）疾病，由于吞噬细胞呼吸爆发活性缺陷，导致其无法杀死细菌和真菌微生物。CGD 患者通常发病率较高，如感染和自身炎症性疾病，死亡率也较高。异基因骨髓移植（BMT）是 CGD 患者的唯一根治方法。
我们报道了越南首例慢性肉芽肿病移植病例。一名 25 月龄男孩患有 X 连锁 CGD，在接受清髓性预处理方案后，接受了来自其 5 岁、完全匹配人类白细胞抗原（HLA）载体同胞的骨髓移植。预处理方案包括 4 天 5.1mg/kg/d 白消安、5 天 30mg/m/d 氟达拉滨和 4 天 10mg/kg/d rATG（Grafalon-Fresenius）。移植后第 13 天中性粒细胞植入，第 30 天二氢罗丹明-1,2,3（DHR 123）流式细胞术检测供者嵌合率为 100%，正常 45 天后达到 38%。移植后 5 个月，患者无感染，DHR 123 检测稳定在 37%，供者嵌合率保持 100%。移植后未观察到移植物抗宿主病迹象。
我们建议骨髓移植是 CGD 患者，特别是 HLA 相同同胞患者的一种安全有效的治疗方法。
