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

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

Journal: Journal of clinical immunology 2024;45(1):6

PMID: 39264505

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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).

Address: Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.; Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan.; Department of Hematology/Oncology, Osaka Women's and Children's Hospital, Osaka, Japan.; Department of Virology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.; Department of Pediatric Gastroenterology, Nutrition and Endocrinology, Osaka Women's and Children's Hospital, Osaka, Japan.; Division of Hematology/Oncology, Kanagawa Children's Medical Center, Yokohama, Japan.; Department of Pediatrics, Kyoto University Hospital, Kyoto, Japan.; Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.; Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan.; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.; Division of Clinical Medicine, The Japanese Red Cross Hokkaido College of Nursing, Hokkaido, Japan.; Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.; Translational Gastroenterology Unit, Experimental Medicine, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DU, UK.; Department of Pediatrics, University of Oxford, Oxford, UK.; Biomedical Research Center, University of Oxford, Oxford, UK.; 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. [email protected].

DOI: 10.1007/s10875-024-01795-6

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

MeSH Terms: Humans, Hematopoietic Stem Cell Transplantation, Japan, Male, Female, Infant, Transplantation, Homologous, Treatment Outcome, Retrospective Studies, Transplantation Conditioning, Adolescent, Child, Preschool, Interleukin-10 Receptor alpha Subunit, Child, Inflammatory Bowel Diseases