Department of Pediatric Hematology and Oncology, Apollo Cancer Institutes, Chennai, India.
Department of Hematology, Christian Medical College, Vellore, India.
Front Immunol. 2021 Jan 8;11:606930. doi: 10.3389/fimmu.2020.606930. eCollection 2020.
Hematopoietic stem cell transplantation (HSCT) is the curative option for many primary immune deficiency disorders (PID). In the last 5 years, increased awareness, availability of diagnostics based on flow cytometry, genetic testing, improved supportive care, use of reduced toxicity conditioning, and success of haploidentical donor HSCT have improved access to HSCT for children with PID in India. We present results on children with PID who underwent HSCT across India and the factors that influenced outcome.
We collected retrospective data on the outcome of HSCT for PID from seven centers. We analyzed the impact of the type of PID, conditioning regimen, time period of HSCT- before or after January 2016, graft versus host disease prophylaxis, cause of mortality and overall survival.
A total of 228 children underwent HSCT for PID at a median age of 12 months (range, 1 to 220 months) with a median follow up of 14.4 months. Infants accounted for 51.3% of the cohort and the male female ratio was 3:1. SCID (25%) and HLH (25%) were the more frequent diagnoses. Matched family donor was available in 36.4% and 44.3% children had a haploidentical HSCT. Reduced and myeloablative conditioning regimens were used with 64% children receiving a treosulfan based conditioning regimen. Peripheral blood stem cells were the predominant graft source at 69.3%. The survival in infants (60.2%) was inferior to children aged over 1 year (75.7% p value = 0.01). Children with Wiskott Aldrich syndrome (74.3%) and chronic granulomatous disease (82.6%) had the best outcomes. The survival was superior in children receiving HSCT from a matched sibling (78%) versus an alternate donor HSCT (61% p value = 0.04). In the cohort transplanted after January 2016 survival improved from 26.8% to 77.5% (p value = 0.00). Infection remains the main cause of mortality at in over 50% children. The 5-year overall survival rate was 68%.
Survival of children with PID undergoing HSCT in India has improved dramatically in last 5 years. Alternate donor HSCT is now feasible and has made a therapeutic option accessible to all children with PID.
造血干细胞移植（HSCT）是许多原发性免疫缺陷病（PID）的治愈选择。在过去的 5 年中，由于对 PID 的认识提高、基于流式细胞术的诊断方法、基因检测、支持性治疗的改善、毒性降低的预处理方案的应用以及单倍体相合供者 HSCT 的成功，印度儿童接受 HSCT 的机会增加。我们介绍了在印度进行 HSCT 的 PID 患儿的结果以及影响结果的因素。
我们从 7 个中心收集了关于 PID 患者 HSCT 结果的回顾性数据。我们分析了 PID 类型、预处理方案、HSCT 时间（2016 年 1 月之前或之后）、移植物抗宿主病预防、死亡率和总生存率的影响。
共有 228 名 PID 患儿在中位年龄 12 个月（范围 1 至 220 个月）时接受 HSCT，中位随访时间为 14.4 个月。婴儿占队列的 51.3%，男女比例为 3:1。SCID（25%）和 HLH（25%）是更常见的诊断。36.4%的患儿有匹配的家族供者，44.3%的患儿有单倍体相合 HSCT。使用了减少强度和清髓性预处理方案，64%的患儿接受了基于三氧化硫的预处理方案。外周血干细胞是主要的移植物来源，占 69.3%。婴儿（60.2%）的生存率低于 1 岁以上儿童（75.7%，p 值=0.01）。患有 Wiskott-Aldrich 综合征（74.3%）和慢性肉芽肿病（82.6%）的患儿预后最好。接受同胞供者 HSCT 的患儿生存率优于接受其他供者 HSCT 的患儿（78%比 61%，p 值=0.04）。2016 年 1 月后接受 HSCT 的患儿生存率从 26.8%提高到 77.5%（p 值=0.00）。感染仍然是 50%以上患儿死亡的主要原因。5 年总生存率为 68%。
过去 5 年，印度接受 HSCT 的 PID 患儿的生存率有了显著提高。现在，替代供者 HSCT 是可行的，为所有 PID 患儿提供了一种治疗选择。
