Purpose

Interleukin-10 receptor (IL-10R) deficiency can result in life-threatening very early-onset inflammatory bowel disease (VEO-IBD). Umbilical cord blood transplantation (UCBT) is a curative therapy for patients with IL-10R deficiency. This study aimed to investigate the efficacy of UCBT in treating IL-10R deficiency and develop a predictive model based on pre-transplant factors.

Methods

Eighty patients with IL-10R deficiency who underwent UCBT between July 2015 and April 2023 were retrospectively analyzed. Cox proportional hazards regression and random survival forest were used to develop a predictive model.

Results

Median age at transplant was 13.0 months (interquartile range [IQR], 8.8–25.3 months). With a median follow-up time of 29.4 months (IQR, 3.2–57.1 months), the overall survival (OS) rate was 65.0% (95% confidence interval [CI], 55.3%–76.3%). The engraftment rate was 85% (95% CI, 77%–93%). The cumulative incidences of acute and chronic graft-versus-host disease were 48.2% (95% CI, 37.1%–59.4%) and 12.2% (95% CI, 4.7%–19.8%), respectively. VEO-IBD-associated clinical symptoms were resolved in all survivors. The multivariate analysis showed that IL-6 and stool occult blood were independent prognostic risk factors. The multivariate Cox proportional hazards regression model with stool occult blood, length- or height-for-age Z-score, medical history of sepsis, and cord blood total nucleated cells showed good discrimination ability, with a bootstrap concordance index of 0.767–0.775 in predicting OS.

Conclusion

Better inflammation control before transplantation and higher cord blood total nucleated cell levels can improve patient prognosis. The nomogram can successfully predict OS in patients with IL-10R deficiency undergoing UCBT.

中文翻译：

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脐带血移植治疗由白细胞介素 10 受体缺乏引起的极早发炎症性肠病

目的

白细胞介素 10 受体 (IL-10R) 缺乏可导致危及生命的极早发性炎症性肠病 (VEO-IBD)。脐带血移植（UCBT）是治疗 IL-10R 缺乏症患者的一种疗法。本研究旨在探讨 UCBT 治疗 IL-10R 缺乏症的疗效，并开发基于移植前因素的预测模型。

方法

回顾性分析 2015 年 7 月至 2023 年 4 月期间接受 UCBT 的 80 例 IL-10R 缺乏症患者。 Cox 比例风险回归和随机生存森林用于开发预测模型。

结果

移植时的中位年龄为 13.0 个月（四分位数范围 [IQR]，8.8–25.3 个月）。中位随访时间为 29.4 个月（IQR，3.2-57.1 个月），总生存 (OS) 率为 65.0%（95% 置信区间 [CI]，55.3%-76.3%）。植入率为 85%（95% CI，77%–93%）。急性和慢性移植物抗宿主病的累积发生率分别为48.2%（95% CI，37.1%–59.4%）和12.2%（95% CI，4.7%–19.8%）。所有幸存者的 VEO-IBD 相关临床症状均得到缓解。多因素分析显示IL-6和粪便潜血是独立的预后危险因素。包含粪便隐血、年龄别身长或身高 Z 评分、败血症病史和脐带血总有核细胞的多变量 Cox 比例风险回归模型显示出良好的区分能力，引导一致性指数为 0.767-0.775。预测操作系统。

结论

移植前更好的炎症控制和更高的脐带血总有核细胞水平可以改善患者预后。该列线图可以成功预测接受 UCBT 的 IL-10R 缺乏患者的 OS。