Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency.
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.
Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan. kanegane@med.u-toyama.ac.jp
Hirokazu
H
Kanegane
Hiromichi
H
Taneichi
Keiko
K
Nomura
Taizo
T
Wada
Akihiro
A
Yachie
Kohsuke
K
Imai
Tadashi
T
Ariga
Ines
I
Santisteban
Michael S
MS
Hershfield
Toshio
T
Miyawaki
D000243:Adenosine Deaminase / Q000172:deficiency* / Q000276:immunology; D000361:Agammaglobulinemia / Q000276:immunology / Q000628:therapy*; D016026:Bone Marrow Transplantation / Q000379:methods*; D002066:Busulfan / Q000008:administration & dosage; D002675:Child, Preschool; D006801:Humans; D019520:Living Donors; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000276:immunology / Q000628:therapy*; D013997:Time Factors; D019172:Transplantation Conditioning / Q000379:methods*; D016896:Treatment Outcome; D014740:Vidarabine / Q000008:administration & dosage / Q000031:analogs & derivatives
D000243:Adenosine Deaminase; D014740:Vidarabine; D002066:Busulfan; C024352:fludarabine