Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2

Pediatr Transplant. 2013 Aug;17(5):487-91. doi: 10.1111/petr.12092. Epub 2013 May 29.


Partial albinism with variable immunodeficiency are the two major characteristics of Griscelli syndrome type 2 (GS-2). This syndrome is usually associated with a high mortality rate and commonly results in early childhood death. Patients suffer from different infections and experience crisis of HLH. HSCT remains the sole curative treatment for GS-2. We prospectively analyzed the outcomes of transplantation with RIC regimen in five patients. The median age at transplantation was 21.6 months (range: 12-30). All of the patients underwent HSCT from HLA-matched related donors. Currently, four patients are cured, and symptoms of recurrent infections and HLH crisis are not seen in them. The only patient who died had undergone HSCT in the accelerated phase of HLH. One patient who developed acute GvHD had a favorable response to therapy. No chronic GvHD occurred in patients. It seems that the use of RIC regimen as a method of transplant preparation is effective and tolerable in this group of patients with various comorbidities. It is recommended to carry out HSCT in these patients at lower ages, before presentations of different infections and HLH crisis.

Keywords: Griscelli syndrome; hematopoietic stem cell transplantation; reduced-intensity conditioning.

MeSH terms

  • Child, Preschool
  • Follow-Up Studies
  • Graft vs Host Disease
  • HLA Antigens / metabolism
  • Hematopoietic Stem Cell Transplantation / methods*
  • Humans
  • Immune System
  • Immunologic Deficiency Syndromes / therapy*
  • Infant
  • Lymphohistiocytosis, Hemophagocytic
  • Male
  • Myeloablative Agonists / therapeutic use
  • Piebaldism / therapy*
  • Primary Immunodeficiency Diseases
  • Prospective Studies
  • Tissue Donors
  • Transplantation Conditioning / methods*
  • Treatment Outcome
  • Vidarabine / analogs & derivatives
  • Vidarabine / therapeutic use


  • HLA Antigens
  • Myeloablative Agonists
  • Vidarabine
  • fludarabine

Supplementary concepts

  • Griscelli syndrome type 2