1. ¹Department of Medicine, Statistical Center, Center for International Blood and Marrow Transplant Registry, Medical College of Wisconsin, Milwaukee, WI, USA
2. ²Division of General and Community Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
3. ³Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA
4. ⁴Department of Pediatrics, Columbia University, New York, NY, USA
5. ⁵Pediatric BMT Program, University of California Medical Center, San Francisco, CA, USA
6. ⁶Department of Pediatrics, Duke University Medical Center, Durham, NC, USA
7. ⁷Department of Pediatric Oncology/BMT, Bristol Royal Hospital for Children, Bristol, UK
8. ⁸BMT Service, Great Ormond Street Hospital for Children NHS Trust, London, UK

Correspondence: Dr AH Filipovich, Cincinnati Children's Hospital (ML 7015), 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA. E-mail: filil0@cchmc.org

Received 27 October 2006; Revised 10 January 2007; Accepted 10 January 2007; Published online 12 February 2007.

Abstract

We reviewed outcomes after allogeneic hematopoietic cell transplantation (HCT) in 35 children with Chediak–Higashi syndrome (CHS). Twenty-two patients had a history of the life-threatening accelerated phase of CHS before HCT and 11 were in accelerated phase at transplantation. Thirteen patients received their allograft from an human leukocyte antigen (HLA)-matched sibling, 10 from an alternative related donor and 12 from an unrelated donor. Eleven recipients of HLA-matched sibling donor, three recipients of alternative related donor and eight recipients of unrelated donor HCT are alive. With a median follow-up of 6.5 years, the 5-year probability of overall survival is 62%. Mortality was highest in those with accelerated phase disease at transplantation and after alternative related donor HCT. Only four of 11 patients with active disease at transplantation are alive. Seven recipients of alternative related donor HCT had active disease at transplantation and this may have influenced the poor outcome in this group. Although numbers are limited, HCT appears to be effective therapy for correcting and preventing hematologic and immunologic complications of CHS, and an unrelated donor may be a suitable alternative for patients without an HLA-matched sibling. Early referral and transplantation in remission after accelerated phase disease may improve disease-free survival.