title: Fludarabine, low-dose cyclophosphamide and rabbit antithymocyte globulin allowed stable engraftment after allogeneic peripheral blood stem cell transplantation for poly-transfused dyskeratosis congenita patient: case report.
abstract: BACKGROUND
  Dyskeratosis congenita (DC) is characterized by the clinical triad of reticular skin pigmentation, oral leukoplakia, and nail dystrophy associated with bone marrow failure (BMF) and an high risk to develop cancer and pulmonary complications. The only curative treatment for patients with DC and BMF is stem cell transplantation. Due to the rarity of the disease, the best transplant procedure is not yet known. The use of myeloablative procedures has been associated with high mortality. In the last 2 decades, encouraging results have been obtained with nonmyeloablative procedures. Heavily transfused patients have an additional risk of graft failure.
  
  
  METHODS
  Herein we have reported a 4-year-old boy with DC and severe BMF at the time of transplantation, who had been transfused with nonleucodepleted blood products for 18 months. He experienced a favorable outcome after nonmyeloablative transplant conditioning using low-dose cyclophosphamide (40 mg/kg), fludarabine (180 mg/kg), and rabbit antithymocyte globulin (10 mg/kg). The patient received a peripheral stem cell graft containing 7.52 × 10(6) CD34/kg from an HLA identical sister. Graft versus host disease (GVHD) prophylaxis consisted of a short-term combination of cyclosporine and methotrexate.
  
  
  RESULTS
  We observed rapid neutrophil engraftment on day +21 and for platelets on day +40. No early or late complications were recorded during 15 months follow-up. The patient developed only grade I skin GVHD. On day +30, chimerism assay showed 100% donor cells.
  
  
  CONCLUSIONS
  Long-term follow-up is essential to establish the efficacy and safety of this procedure.
authors.affiliation: Fundeni Clinical Institute, Bucharest, Romania; Carol Davila University of Medicine and Pharmacy, Bucharest, Romania. Electronic address: ancacolita@yahoo.com.
authors.forename: A
authors.initials: A
authors.lastname: Coliţă
authors.forename: A
authors.initials: A
authors.lastname: Tanase
authors.forename: Z
authors.initials: Z
authors.lastname: Varady
authors.forename: A D
authors.initials: AD
authors.lastname: Coliţă
authors.forename: C
authors.initials: C
authors.lastname: Arion
mesh_terms: D064591:Allografts; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D002675:Child, Preschool; D003520:Cyclophosphamide / Q000008:administration & dosage; D004305:Dose-Response Relationship, Drug; D006086:Graft vs Host Disease / Q000517:prevention & control; D006801:Humans; D008297:Male; D033581:Stem Cell Transplantation; D016019:Survival Analysis; D016896:Treatment Outcome; D014740:Vidarabine / Q000008:administration & dosage / Q000031:analogs & derivatives
chemical_list: D003520:Cyclophosphamide; D014740:Vidarabine; C024352:fludarabine