Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan

IF 7.2 2区医学 Q1 IMMUNOLOGY

Journal of Clinical Immunology Pub Date : 2024-09-12 DOI:10.1007/s10875-024-01795-6

Dan Tomomasa, Tasuku Suzuki, Ichiro Takeuchi, Kimitoshi Goto, Shin-Ichiro Hagiwara, Dai Keino, Satoshi Saida, Takashi Ishige, Takahiro Kudo, Katsuhide Eguchi, Masataka Ishimura, Yusuke Matsuda, Taizo Wada, Yoshiya Ito, Motohiro Kato, Yoji Sasahara, Tomohiro Morio, Katsuhiro Arai, Holm H Uhlig, Hirokazu Kanegane

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Abstract

Background

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.

Methods

We retrospectively analyzed patients with IL10RA deficiency in Japan.

Results

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.

Conclusion

In cases of IL10RA deficiency, the need for transplantation should be promptly assessed, and early transplantation should be considered. (190/250)

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日本为 IL10RA 缺乏症患者成功实施异基因造血细胞移植手术

背景IL10RA（IL10受体亚基α）缺乏症是一种常染色体隐性遗传病，会在婴儿早期引起炎症性肠病。其临床过程通常是致命的，唯一的治疗方法是异基因造血细胞移植（HCT）。方法我们回顾性分析了日本的 IL10RA 缺乏症患者。结果本研究纳入了两名新发现的患者和五名之前报道过的患者。五名患者接受了造血干细胞移植；一名未接受移植的患者存活至 14 岁，一名在移植前死于流感脑病。五名接受造血干细胞移植的患者均在两岁前接受了造血干细胞移植。他们都接受了以氟达拉滨/布舒凡或氟达拉滨/美法仑为基础的治疗方案。两名患者的供体来源为人类白细胞抗原单倍体供体骨髓（BM），两名患者的供体来源为非亲缘脐带血（CB）。一名患者的非亲缘脐带血移植失败，需要进行第二次非亲缘骨髓移植。所有接受造血干细胞移植的患者都存活了下来，而且表现状况有所改善。(190/250)

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来源期刊

Journal of Clinical Immunology 医学-免疫学

CiteScore

12.20

自引率

9.90%

发文量

218

审稿时长

2 months

期刊介绍： The Journal of Clinical Immunology publishes impactful papers in the realm of human immunology, delving into the diagnosis, pathogenesis, prognosis, or treatment of human diseases. The journal places particular emphasis on primary immunodeficiencies and related diseases, encompassing inborn errors of immunity in a broad sense, their underlying genotypes, and diverse phenotypes. These phenotypes include infection, malignancy, allergy, auto-inflammation, and autoimmunity. We welcome a broad spectrum of studies in this domain, spanning genetic discovery, clinical description, immunologic assessment, diagnostic approaches, prognosis evaluation, and treatment interventions. Case reports are considered if they are genuinely original and accompanied by a concise review of the relevant medical literature, illustrating how the novel case study advances the field. The instructions to authors provide detailed guidance on the four categories of papers accepted by the journal.