Medina Diego, Castro Jhonier Orlando, Castro David Esteban, Beltrán Estefanía, Manzi Eliana, Franco Alexis Antonio, Olaya Manuela
Unidad de Trasplante de Progenitores Hematopoyéticos, Servicio de Hemato-Oncología Pediátrica, Departamento Materno Infantil, Fundación Valle del Lili, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad ICESI, Cali, Colombia.
Facultad de Ciencias de la Salud, Universidad ICESI, Cali, Colombia.
Biomedica. 2024 Dec 23;44(Sp. 2):118-130. doi: 10.7705/biomedica.7560.
Inborn errors of immunity is a diverse group of rare diseases caused by over 400 genetic mutations affecting the immune system and increasing infection susceptibility, autoimmunity, and malignancy. Hematopoietic stem cell transplantation offers a curative option for some inborn errors of immunity, with haploidentical donors providing a viable alternative when identical donors are unavailable.
To determine survival, usefulness of weekly chimerism monitoring, immune reconstitution, and complications in patients with inborn errors of immunity who underwent haploidentical hematopoietic stem cell transplantation at a reference center in Colombia.
We conducted a retrospective and observational study of a case series of pediatric patients who underwent haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and follow-up with weekly chimerism. Survival analysis was performed using the Kaplan-Meier method.
Sixteen patients with haploidentical familial donor transplantation were included. The most frequent diagnosis was severe combined immunodeficiency (n=5). Eleven out of seventeen patients received a non-myeloablative conditioning regimen. Twelve out of sixteen patients developed acute graft-versus-host disease. Out of these, 3 corresponded to grades III-IV. Post-transplant infections affected 14 of the subjects, predominating bacterial agents. Median T-cell chimerism was greater than 80% during the follow-up. Reconstitution of B and T lymphocytes was achieved in more than 80%. Overall survival at five years was 81%. Survival at 100 days was 94%.
Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide is a viable alternative for inborn errors of immunity when an identical donor is unavailable. Serial chimerism monitoring is useful for graft follow-up.
遗传性免疫缺陷是一组由400多种影响免疫系统的基因突变引起的罕见疾病，会增加感染易感性、自身免疫性和恶性肿瘤的发生风险。造血干细胞移植为某些遗传性免疫缺陷提供了治愈选择，当找不到同基因供体时，单倍体相合供体是一种可行的替代方案。
确定在哥伦比亚一家参考中心接受单倍体相合造血干细胞移植的遗传性免疫缺陷患者的生存率、每周嵌合体监测的作用、免疫重建情况及并发症。
我们对一组接受单倍体相合造血干细胞移植并使用移植后环磷酰胺治疗且每周进行嵌合体监测随访的儿科患者进行了回顾性观察研究。采用Kaplan-Meier方法进行生存分析。
纳入了16例接受单倍体相合家族供体移植的患者。最常见的诊断是严重联合免疫缺陷（n = 5）。17例患者中有11例接受了非清髓性预处理方案。16例患者中有12例发生了急性移植物抗宿主病。其中，3例为III-IV级。移植后感染影响了14名受试者，以细菌病原体为主。随访期间T细胞嵌合体中位数大于80%。超过80%的患者实现了B和T淋巴细胞重建。五年总生存率为81%。100天生存率为94%。
当找不到同基因供体时，使用移植后环磷酰胺的单倍体相合造血干细胞移植是遗传性免疫缺陷的一种可行替代方案。连续嵌合体监测对移植物随访有用。
