Hematopoietic stem cell transplantation with reduced intensity conditioning from a family haploidentical donor in an infant with familial hemophagocytic lymphohistocytosis

Int J Hematol. 2011 Sep;94(3):285-290. doi: 10.1007/s12185-011-0916-6. Epub 2011 Aug 24.

Abstract

Allogeneic hematopoietic stem cell transplantation is the only curative method for patients with familial hemophagocytic lymphohistiocytosis (FHL). We present a case of a 3-month-old girl with Munc13-4 mutation (FHL3), who underwent bone marrow transplantation (BMT) from her human leukocyte antigen-haploidentical mother following reduced intensity conditioning (RIC) with fludarabine, melphalan, and busulfan. Engraftment after BMT was generally uneventful, with only mild acute graft versus host disease. Munc13-4 protein was restored following BMT, and she is well and free of disease 14 months after BMT. These results suggest that BMT with RIC from a family haploidentical donor may sufficiently restore immune regulation in infants, while lessening treatment-related mortality and long-term sequelae.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Graft vs Host Disease / drug therapy
  • Graft vs Host Disease / etiology
  • Haploidy
  • Hematopoietic Stem Cell Transplantation* / adverse effects
  • Heterozygote
  • Humans
  • Infant
  • Lymphohistiocytosis, Hemophagocytic / genetics
  • Lymphohistiocytosis, Hemophagocytic / therapy*
  • Membrane Proteins / genetics
  • Mutation / genetics
  • Prednisolone / therapeutic use
  • Tissue Donors
  • Transplantation Chimera
  • Transplantation Conditioning*
  • Transplantation, Homologous

Substances

  • Membrane Proteins
  • UNC13D protein, human
  • Prednisolone