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

Abstract

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.

Long-Term Safety of Short-Term Administration of Filgrastim (rhG-CSF) and Leukophresis Procedure in Healthy Children: Application of Peripheral Blood Stem Cell Collection in Pediatric Donors

“…Allogeneic hematopoietic stem cell transplantation (HSCT) is the only treatment modality offering cure or long-term survival for a variety of pediatric and adult diseases, including hematologic malignancies, immunodeficiencies, hemoglobinopathies, and metabolic disorders [1,2]. An identical sibling is considered the optimal donor, as he or she is more likely to be matched with the recipient and use of an immunologically identical sibling is associated with better clinical outcome and reduced rates of transplant-related complications [1].…”

Fludarabine‐based reduced‐intensity conditioning regimen for hematopoietic stem cell transplantation in primary hemophagocytic lymphohistiocytosis

“…Three patients were diagnosed with FHLH and 2 patients had Chediak–Higashi syndrome. Five other patients had GS‐II whose data with shorter follow‐up period were published in another article .…”

“…Due to the rarity of primary HLH, few studies have reported the results of transplantation in these patients . There are published reports of patients including adults and pediatric patients diagnosed with HLH (primary and secondary) and treated with MAC and RIC regimens . So, it seems difficult to select a suitable conditioning regimen for pediatric patients with primary HLH.…”

Long-term outcomes of fludarabine, melphalan and antithymocyte globulin as reduced-intensity conditioning regimen for allogeneic hematopoietic stem cell transplantation in children with primary immunodeficiency disorders: a prospective single center study

“…PIDs are rare genetic diseases and most of them are lethal in childhood, mainly due to serious infections. Despite allogeneic HSCT being recognized as a curative approach in children suffering from various types of PIDs [27][28][29] and in spite of improved techniques a number of issues remain to be answered including the best conditioning regimen and the level of chimerism that would ensure cure. Introduction of RIC has offered many patients ineligible for MAC a chance for cure.…”