Purpose

To characterize the pediatric population with inborn errors of immunity (IEI) that was treated with hematopoietic stem cell transplantation (HSCT) in three reference centers in Colombia. What have been the characteristics and outcomes of hematopoietic stem cell transplantation in pediatric patients with inborn errors of immunity in three reference care centers in Colombia between 2007 and 2018?

Methods

We conducted an observational, retrospective cohort study in children with a diagnosis of IEI who underwent HSCT between 2007 and 2018.

Results

Forty-seven patients were identified, and 5 were re-transplanted. Sixty-eight percent were male. The median age at diagnosis was 0.6 years, and for HSCT was 1.4 years. The most common diseases were chronic granulomatous disease (38%) followed by severe combined immune deficiencies (19%) and hemophagocytic lymphohistiocytosis (15%). Cord blood donors were the most used source of HSCT (44%). T cell–replete grafts from haploidentical donors using post-transplantation cyclophosphamide represent 37% of the cohort. All patients received conditioning, 62% with a non-myeloablative regimen. Calcineurin inhibitors were the main graft-versus-host disease prophylaxis (63.8%). Acute graft-versus-host disease developed in 35% of the total patients. The most frequent post-transplant infections were viral and fungal infections. The 1-year overall survival rates for the patients who received HSCT from identical, haploidentical, and cord sources were 80%, 72%, and 63%, respectively. The 5-year overall survival was 63%.

Conclusions

HSCT is a curative treatment option for some IEI and can be performed with any donor type. Early and timely treatment in referral centers can improve survival.

中文翻译：

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先天性免疫缺陷儿童的造血干细胞移植：哥伦比亚的多中心经验。

目的

研究在哥伦比亚三个参考中心接受造血干细胞移植 (HSCT) 治疗的先天性免疫缺陷 (IEI) 儿科人群的特征。2007 年至 2018 年期间，哥伦比亚三个参考护理中心的先天免疫缺陷儿科患者的造血干细胞移植的特征和结果如何？

方法

我们对 2007 年至 2018 年间接受 HSCT 的诊断为 IEI 的儿童进行了一项观察性、回顾性队列研究。

结果

确定了 47 名患者，其中 5 名再次移植。百分之六十八是男性。诊断时的中位年龄为 0.6 岁，HSCT 为 1.4 岁。最常见的疾病是慢性肉芽肿病（38%），其次是严重的联合免疫缺陷（19%）和噬血细胞性淋巴组织细胞增生症（15%）。脐带血捐献者是最常用的 HSCT 来源（44%）。来自使用移植后环磷酰胺的半相合供体的充满 T 细胞的移植物占队列的 37%。所有患者都接受了调理，62% 的患者接受了非清髓方案。钙调神经磷酸酶抑制剂是主要的移植物抗宿主病预防（63.8%）。35% 的患者发生了急性移植物抗宿主病。最常见的移植后感染是病毒和真菌感染。接受来自相同、半相合和脐带源的 HSCT 的患者的 1 年总生存率分别为 80%、72% 和 63%。5 年总生存率为 63%。

结论

HSCT 是一些 IEI 的治愈性治疗选择，可以用任何供体类型进行。在转诊中心进行早期和及时​​的治疗可以提高生存率。