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Case Report
Successful hematopoietic stem cell transplantation with reduced dose of busulfan for Omenn syndrome
Yukihiro Matsukawa1, Kyohei Isshiki1,2, Tomoo Osumi1, Satoshi Fujiyama3, Hiroko Fukushima3,4, Toru Uchiyama1,5, Masaki Yamada6, Takao Deguchi1, Ken-Ichi Imadome6, Kimikazu Matsumoto1, Daisuke Tomizawa1, Hidetoshi Takada3,4, Masafumi Onodera5, Motohiro Kato1

1Children's Cancer Center, National Center for Child Health and Development

2Department of Pediatrics, Saitama City Hospital

3Department of Pediatrics, University of Tsukuba Hospital

4Department of Child Health, Faculty of Medicine, University of Tsukuba

5Department of Human Genetics, National Center for Child Health and Development

6Department of Advanced Medicine for Viral Infections, National Center for Child Health and Development

omenn syndrome, severe combined immunodeficiency, reduced intensity conditioning
Submitted:September 25, 2021
Accepted:February 6, 2022
Published online:May 27, 2022


Omenn syndrome (OS) is typically observed in the autosomal recessive form of severe combined immunodeficiency (SCID) with autoreactive manifestations, and it requires allogeneic hematopoietic stem cell transplantation. Unlike non-OS SCID, a conditioning regimen is usually required to eradicate T-cells; however, optimal conditioning regimens are not established mainly because of the rarity of OS. Here, we report a case of hematopoietic stem cell transplantation with a reduced dose of busulfan, as a conditioning regimen and successful engraftment with complete chimerism. OS was diagnosed in a one-month-old boy based on a diffuse erythematous rash, absent B-cells, and activated T-cells. Genetic analysis failed to identify causative mutations for OS/SCID, such as RAG1/2. Bone marrow transplantation was performed from his HLA-matched sister with a conditioning regimen consisting of targeted busulfan, fludarabine, and anti-thymocyte globulin. Cyclosporine had been administered before transplantation to control abnormal T-cell activation and continued for graft-versus-host disease (GVHD) prophylaxis. Engraftment was achieved on day 12, and no GVHD symptoms were observed. For stem cell transplantation for OS, prior control of autoreactive symptoms with immunosuppressants is important for safe transplantation and reduced intensity conditioning (RIC) can be an option to achieve sustained engraftment.



Online ISSN:2432-7026