Successful allogeneic hematopoietic cell transplantation for patients with IL10RA deficiency in Japan

Journal article

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 f ive HCT recipients underwent HCT at the age before 2 years. They all were conditioned with fludarabine/busulfan- or f ludarabine /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.

Authors: Tomomasa, D; Suzuki, T; Takeuchi, I; Goto, K; Hagiwara, S-I

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer
• Journal: Journal of Clinical Immunology
• Volume: 45
• Issue: 1
• Article number: 6
• Place of publication: Netherlands
• Publication date: 2024-09-12
• Acceptance date: 2024-08-28
• DOI: 10.1007/s10875-024-01795-6
• EISSN: 1573-2592
• ISSN: 0271-9142
• Pmid: 39264505
• Language: English
• Keywords: transplantation; homologous; stem cell research - umbilical cord blood/ placenta; treatment outcome; inflammatory bowel diseases; interleukin-10 receptor alpha subunit; regenerative medicine; hematopoietic stem cell transplantation; clinical research; inflammatory and immune system; stem cell research - nonembryonic - human; rare diseases; stem cell research; Japan; transplantation conditioning; retrospective studies