Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Kanegane, H; Taneichi, H; Nomura, K; Wada, T; Yachie, A; Imai, K; Ariga, T; Santisteban, I; Hershfield, MS; Miyawaki, T

Published Date

  • February 2013

Published In

Volume / Issue

  • 17 / 1

Start / End Page

  • E29 - E32

PubMed ID

  • 22805442

Electronic International Standard Serial Number (EISSN)

  • 1399-3046

Digital Object Identifier (DOI)

  • 10.1111/j.1399-3046.2012.01762.x


  • eng

Conference Location

  • Denmark