Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed‐onset adenosine deaminase deficiency |
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| Authors: | Hirokazu Kanegane Hiromichi Taneichi Keiko Nomura Taizo Wada Akihiro Yachie Kohsuke Imai Tadashi Ariga Ines Santisteban Michael S. Hershfield Toshio Miyawaki |
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| Affiliation: | 1. Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan;2. Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan;3. Department of Community Pediatrics, Perinatal and Maternal Medicine, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan;4. Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan;5. Department of Medicine and Biochemistry, Duke University Medical Center, Durham, NC, USA |
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| Abstract: | Kanegane H, Taneichi H, Nomura K, Wada T, Yachie A, Imai K, Ariga T, Santisteban I, Hershfield MS, Miyawaki T. Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed‐onset adenosine deaminase deficiency. Abstract: In this case report, we describe successful BMT with RIC in a patient with delayed‐onset ADA deficiency. A three‐yr‐old Japanese boy was diagnosed with delayed‐onset ADA deficiency because of recurrent bronchitis, bronchiectasia, and lymphopenia. In addition, autoimmune thyroiditis and neutropenia were present. At four yr of age, he underwent BMT with a RIC regimen, including busulfan and fludarabine, from an HLA‐identical healthy sister. Engraftment after BMT was uneventful without GVHD. Decreased ADA levels in blood immediately increased following BMT, and the patient was disease‐free 13 months after BMT. These results suggest that BMT with RIC may sufficiently restore immune regulation in delayed‐onset ADA deficiency. A longer follow‐up period is needed to confirm these observations. |
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| Keywords: | adenosine deaminase deficiency delayed‐onset bone marrow transplantation reduced intensity conditioning |
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