. 2024 Sep 12;45(1):6.

doi: 10.1007/s10875-024-01795-6.

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

Dan Tomomasa¹, Tasuku Suzuki², Ichiro Takeuchi³, Kimitoshi Goto^{4

5}, Shin-Ichiro Hagiwara⁶, Dai Keino⁷, Satoshi Saida⁸, Takashi Ishige⁹, Takahiro Kudo¹⁰, Katsuhide Eguchi¹¹, Masataka Ishimura¹¹, Yusuke Matsuda¹², Taizo Wada¹², Yoshiya Ito¹³, Motohiro Kato¹⁴, Yoji Sasahara², Tomohiro Morio¹, Katsuhiro Arai³, Holm H Uhlig^{15

16

17}, Hirokazu Kanegane¹⁸

Affiliations

¹ Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
² Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
³ Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan.
⁴ Department of Hematology/Oncology, Osaka Women's and Children's Hospital, Osaka, Japan.
⁵ Department of Virology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
⁶ Department of Pediatric Gastroenterology, Nutrition and Endocrinology, Osaka Women's and Children's Hospital, Osaka, Japan.
⁷ Division of Hematology/Oncology, Kanagawa Children's Medical Center, Yokohama, Japan.
⁸ Department of Pediatrics, Kyoto University Hospital, Kyoto, Japan.
⁹ Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
¹⁰ Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan.
¹¹ Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
¹² Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.
¹³ Division of Clinical Medicine, The Japanese Red Cross Hokkaido College of Nursing, Hokkaido, Japan.
¹⁴ Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
¹⁵ Translational Gastroenterology Unit, Experimental Medicine, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DU, UK.
¹⁶ Department of Pediatrics, University of Oxford, Oxford, UK.
¹⁷ Biomedical Research Center, University of Oxford, Oxford, UK.
¹⁸ Deparment of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. hkanegane.ped@tmd.ac.jp.

PMID: 39264505
DOI: 10.1007/s10875-024-01795-6

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

Dan Tomomasa et al. J Clin Immunol. 2024.

. 2024 Sep 12;45(1):6.

doi: 10.1007/s10875-024-01795-6.

Authors

Affiliations

¹ Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
² Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
³ Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan.
⁴ Department of Hematology/Oncology, Osaka Women's and Children's Hospital, Osaka, Japan.
⁵ Department of Virology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
⁶ Department of Pediatric Gastroenterology, Nutrition and Endocrinology, Osaka Women's and Children's Hospital, Osaka, Japan.
⁷ Division of Hematology/Oncology, Kanagawa Children's Medical Center, Yokohama, Japan.
⁸ Department of Pediatrics, Kyoto University Hospital, Kyoto, Japan.
⁹ Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
¹⁰ Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan.
¹¹ Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
¹² Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.
¹³ Division of Clinical Medicine, The Japanese Red Cross Hokkaido College of Nursing, Hokkaido, Japan.
¹⁴ Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
¹⁵ Translational Gastroenterology Unit, Experimental Medicine, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DU, UK.
¹⁶ Department of Pediatrics, University of Oxford, Oxford, UK.
¹⁷ Biomedical Research Center, University of Oxford, Oxford, UK.
¹⁸ Deparment of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. hkanegane.ped@tmd.ac.jp.

PMID: 39264505
DOI: 10.1007/s10875-024-01795-6

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).

Keywords: Busulfan; Fludarabine; Hematopoietic cell Transplantation; IL10RA Deficiency; Inborn Errors of Immunity; Japan; Melphalan.

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Hematopoietic stem cell transplantation in Crohn's disease: a comprehensive review.
Gupta A, Ricart E, Cohen L. Gupta A, et al. Curr Opin Gastroenterol. 2025 Jul 1;41(4):175-181. doi: 10.1097/MOG.0000000000001096. Epub 2025 Apr 14. Curr Opin Gastroenterol. 2025. PMID: 40232992 Free PMC article. Review.

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

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

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