Treosulfan-based reduced toxicity hematopoietic stem cell transplantation in X-linked agammaglobulinemia: A cost-effective alternative to long-term immunoglobulin replacement in developing countries

Pediatr Transplant. 2020 Feb;24(1):e13625. doi: 10.1111/petr.13625. Epub 2019 Dec 10.

Abstract

X-linked agammaglobulinemia (XLA) is a primary antibody disorder due to a mutation in the Bruton tyrosine kinase gene that requires lifelong immunoglobulin replacement resulting in a significant economic burden and treatment abandonment. Hematopoietic stem cell transplantation (HSCT) offers an alternative option for complete cure. In our series, two children with XLA underwent successful HSCT using a myeloablative conditioning with thiotepa, treosulfan, and fludarabine from a matched sibling donor. The second child had rejected his first graft following a busulfan-based regimen with resultant autologous reconstitution. At 6 months post-HSCT, serum IgG were normal, off IVIG, and had no infections. Both children after a median follow-up of 20 months have 100% chimerism. Treosulfan-based reduced toxicity myeloablative HSCT has encouraging results with a positive impact on the socioeconomics in developing countries.

Keywords: X-linked agammaglobulinemia; children; cure; hematopoietic stem cell transplantation; treosulfan -based conditioning.

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinemia / economics
  • Agammaglobulinemia / therapy*
  • Busulfan / analogs & derivatives*
  • Busulfan / therapeutic use
  • Cost-Benefit Analysis*
  • Developing Countries*
  • Drug Therapy, Combination
  • Genetic Diseases, X-Linked / economics
  • Genetic Diseases, X-Linked / therapy*
  • Hematopoietic Stem Cell Transplantation / economics
  • Hematopoietic Stem Cell Transplantation / methods*
  • Humans
  • Immunoglobulins, Intravenous / economics
  • Immunoglobulins, Intravenous / therapeutic use
  • Immunosuppressive Agents / therapeutic use*
  • India
  • Infant
  • Male
  • Transplantation Conditioning / adverse effects
  • Transplantation Conditioning / economics
  • Transplantation Conditioning / methods*

Substances

  • Immunoglobulins, Intravenous
  • Immunosuppressive Agents
  • treosulfan
  • Busulfan

Supplementary concepts

  • Bruton type agammaglobulinemia