Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
J Clin Immunol. 2024 Sep 12;45(1):6. doi: 10.1007/s10875-024-01795-6.
IL10RA (IL10 receptor subunit alpha) deficiency is an autosomal recessive disease that causes inflammatory bowel disease during early infancy. Its clinical course is often fatal and the only curative treatment is allogeneic hematopoietic cell transplantation (HCT). In Japan, only case reports are available, and there are no comprehensive reports of treatment outcomes.
We retrospectively analyzed patients with IL10RA deficiency in Japan.
Two newly identified and five previously reported patients were included in this study. Five patients underwent HCT; one untransplanted patient survived to age 14, and one died of influenza encephalopathy before transplantation. All five HCT recipients underwent HCT at the age before 2 years. They all were conditioned with fludarabine/busulfan- or fludarabine /melphalan-based regimens. The donor source was human leukocyte antigen haploidentical donor bone marrow (BM) for two patients and unrelated umbilical cord blood (CB) for two patients. One patient experienced graft failure with unrelated CB and required a second transplant with unrelated BM. All patients who underwent HCT survived and demonstrated an improved performance status.
In cases of IL10RA deficiency, the need for transplantation should be promptly assessed, and early transplantation should be considered. (190/250).
IL10RA（IL10 受体亚基 alpha）缺陷是一种常染色体隐性疾病，可导致婴儿早期发生炎症性肠病。其临床病程常是致命的，唯一的根治性治疗是异基因造血细胞移植（HCT）。在日本，仅有病例报告，尚无治疗结果的综合报告。
我们回顾性分析了日本的 IL10RA 缺陷患者。
本研究纳入了 2 名新确诊和 5 名先前报道的患者。5 名患者接受了 HCT；1 名未移植的患者存活至 14 岁，1 名在移植前死于流感脑病。所有 5 名接受 HCT 的患者均在 2 岁之前进行了 HCT。他们均采用氟达拉滨/白消安或氟达拉滨/马法兰为基础的方案进行预处理。供体来源为 2 名患者的人类白细胞抗原单倍体相合供者骨髓（BM）和 2 名患者的无关脐带血（CB）。1 名患者因无关 CB 发生移植物失败，需要进行第二次无关 BM 移植。所有接受 HCT 的患者均存活，并表现出改善的生存质量。
在 IL10RA 缺陷的情况下，应及时评估移植的必要性，并考虑早期移植。
