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)

JOURNAL： Journal of Clinical Immunology

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

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