Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood 2013 Feb 07;121(6):877-83
Date
11/08/2012Pubmed ID
23131490Pubmed Central ID
PMC5162550DOI
10.1182/blood-2012-06-432500Scopus ID
2-s2.0-84873606153 (requires institutional sign-in at Scopus site) 138 CitationsAbstract
There have been no studies on patient outcome after allogeneic hematopoietic cell transplantation (HCT) in patients with X-linked inhibitor of apoptosis (XIAP) deficiency. To estimate the success of HCT, we conducted an international survey of transplantation outcomes. Data were reported for 19 patients. Seven patients received busulfan-containing myeloablative conditioning (MAC) regimens. Eleven patients underwent reduced intensity conditioning (RIC) regimens predominantly consisting of alemtuzumab, fludarabine, and melphalan. One patient received an intermediate-intensity regimen. Survival was poor in the MAC group, with only 1 patient surviving (14%). Most deaths were from transplantation-related toxicities, including venoocclusive disease and pulmonary hemorrhage. Of the 11 patients who received RIC, 6 are currently surviving at a median of 570 days after HCT (55%). Preparative regimen and HLH activity affected outcomes, and of RIC patients reported to be in remission from HLH, survival is 86% (P = .03). We conclude that MAC regimens should not be used for patients with XIAP deficiency. It is possible that the loss of XIAP and its antiapoptotic functions contributes to the high incidence of toxicities observed with MAC regimens. RIC regimens should be pursued with caution and, if possible, efforts should be made to ensure HLH remission before HCT in these patients.
Author List
Marsh RA, Rao K, Satwani P, Lehmberg K, Müller I, Li D, Kim MO, Fischer A, Latour S, Sedlacek P, Barlogis V, Hamamoto K, Kanegane H, Milanovich S, Margolis DA, Dimmock D, Casper J, Douglas DN, Amrolia PJ, Veys P, Kumar AR, Jordan MB, Bleesing JJ, Filipovich AHAuthor
David A. Margolis BA, MD Chair, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAntineoplastic Combined Chemotherapy Protocols
Child
Child, Preschool
Combined Modality Therapy
Europe
Genetic Diseases, X-Linked
Hematopoietic Stem Cell Transplantation
Hemorrhage
Hepatic Veno-Occlusive Disease
Humans
Infant
Japan
Lung
Lymphoproliferative Disorders
Mutation
Remission Induction
Retrospective Studies
Survival Analysis
Survival Rate
Transplantation Conditioning
Transplantation, Homologous
United States
X-Linked Inhibitor of Apoptosis Protein
Young Adult
