Meena Satishkumar, Varla Harika, Swaminathan Venkateswaran Vellaichamy, Chandar Rumesh, Jayakumar Indira, Ramakrishnan Balasubramaniam, Uppuluri Ramya, Raj Revathi
Department of PediatricHematology, Oncology, Blood and Marrow Transplantation, Apollo Hospitals, 320, Padma complex, Anna Salai, 600035 Teynampet, Chennai, Tamil Nadu India.
Department of Pediatric Critical Care Hospitals, Apollo Hospitals, 320, Padma complex, Anna Salai, 600035 Teynampet, Chennai, Tamil Nadu India.
Indian J Hematol Blood Transfus. 2023 Apr;39(2):183-190. doi: 10.1007/s12288-022-01586-2. Epub 2022 Oct 26.
: Very early-onset inflammatory bowel disease (VEOIBD) is defined as IBD in children under six years of age. We present outcome data of hematopoietic stem cell transplantation (HSCT) in the above children. : We performed a retrospective study in children under six years of age who underwent HSCT for VEOIBD with an identified monogenic disorder from December 2012 to December 2020. : Of the 25 children included, the underlying diagnosis was IL10R deficiency (n = 4), Wiskott-Aldrich syndrome (n = 4), Leukocyte adhesion defect (n = 4), Hyper IgM syndrome (n = 3), Chronic granulomatous disease (n = 2), and one each with XIAP deficiency, severe congenital neutropenia, Omenn syndrome, Hyper IgE syndrome, Griscelli syndrome, MHC Class II deficiency, LRBA deficiency, and IPEX syndrome. Donors included a matched family donor in 10(40%); a matched unrelated donor in 8 (32%), haploidentical in 7 (28%) (T depleted 16%, T replete with post-transplant cyclophosphamide12%). Conditioning was myeloablative in 84% ofHSCTs. We documented engraftment in 22 (88%) children, primary graft failure in 2 children (8%), mixed chimerism in 6 (24%) children with mortality in 4/6 children. Children with a sustained chimerism of > 95% did not have recurrence of any features of IBD. Overall survival was 64%, with a median follow-up of 55 months. Mixed chimerism was associated with a significantly increased risk of mortality (p-value = 0.001). : VEOIBD caused by monogenic disorders can be offered HSCT. Early recognition, optimal supportive care, and complete chimerism are essential components to achieving survival.
极早发型炎症性肠病（VEOIBD）定义为6岁以下儿童患有的炎症性肠病。我们展示了上述儿童造血干细胞移植（HSCT）的结果数据。：我们对2012年12月至2020年12月期间因患有已确诊单基因疾病的VEOIBD而接受HSCT的6岁以下儿童进行了一项回顾性研究。：在纳入的25名儿童中，潜在诊断为白细胞介素10受体缺陷（n = 4）、威斯科特-奥尔德里奇综合征（n = 4）、白细胞黏附缺陷（n = 4）、高IgM综合征（n = 3）、慢性肉芽肿病（n = 2），以及各有1例分别患有X连锁凋亡抑制蛋白缺陷、严重先天性中性粒细胞减少症、奥门综合征、高IgE综合征、格里斯切利综合征、MHC II类缺陷、LRBA缺陷和免疫失调多内分泌病肠病X连锁综合征（IPEX综合征）。供体包括10例（40%）匹配的家族供体；8例（32%）匹配的无关供体，7例（28%）单倍体相合供体（T细胞去除的占16%，移植后使用环磷酰胺补充T细胞的占12%）。84%的HSCT采用了清髓性预处理。我们记录到22例（88%）儿童植入成功，2例（8%）发生原发性移植失败，6例（24%）出现混合嵌合体，其中4/6的儿童死亡。嵌合体持续率>95%的儿童未出现炎症性肠病的任何复发特征。总体生存率为64%，中位随访时间为55个月。混合嵌合体与死亡风险显著增加相关（p值 = ０.００１）。：由单基因疾病引起的VEOIBD可以进行HSCT。早期识别、最佳支持治疗和完全嵌合体是实现生存的关键要素。
