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

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 rep...

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Bibliographic Details
Published in:Journal of clinical immunology 2025-12, Vol.45 (1), p.6
Main Authors: Tomomasa, Dan, Suzuki, Tasuku, Takeuchi, Ichiro, Goto, Kimitoshi, Hagiwara, Shin-Ichiro, Keino, Dai, Saida, Satoshi, Ishige, Takashi, Kudo, Takahiro, Eguchi, Katsuhide, Ishimura, Masataka, Matsuda, Yusuke, Wada, Taizo, Ito, Yoshiya, Kato, Motohiro, Sasahara, Yoji, Morio, Tomohiro, Arai, Katsuhiro, Uhlig, Holm H, Kanegane, Hirokazu
Format: Article
Language:English
Subjects:
Allografts
Biomedical and Life Sciences
Biomedicine
Bone marrow transplantation
Busulfan
Case reports
Cord blood
Encephalopathy
Fludarabine
Graft rejection
Hematopoietic stem cells
Histocompatibility antigen HLA
Immunology
Infectious Diseases
Inflammatory bowel diseases
Internal Medicine
Medical Microbiology
Melphalan
Patients
Stem cell transplantation
Umbilical cord
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Summary: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)
ISSN:0271-9142
1573-2592
1573-2592
DOI:10.1007/s10875-024-01795-6