Allogeneic Hematopoietic Stem Cell Transplantation in Leukocyte Adhesion Deficiency Type 1: A Single Center Experience

作者：Al Dhekri Hasan^*; Al Mousa Hamoud; Ayas Mouhab; Al Muhsen Saleh; Al Ghonaium Abdulaziz; Al Ghanam Ghanam; Al Saud Bandar; Arnaout Rand; Al Seraihy Amal; Al Ahmari Ali; Al Jefri Abdullah; Al Mahr Mohammed; El Solh Hassan

来源：Biology of Blood and Marrow Transplantation, 2011, 17(8): 1245-1249.

DOI：10.1016/j.bbmt.2010.12.714

• Matched related donor
• Mismatched related donor
• Unrelated cord blood
• Cyclosporine A
• Primary immunodeficiency disease

Leukocyte adhesion deficiency type 1 is a rare autosomal recessive immunodeficiency disorder. The severe phenotype is fatal unless hematopoietic stem cell transplantation (HSCT) is performed. A retrospective analysis was performed in 11 patients with leukocyte adhesion deficiency type 1 who underwent HSCT and monitoring over a period of 19 years at our institution. The median age at HSCT was 8.8 months. Stem cell sources were unmanipulated bone marrow from an HLA-matched related donor in 7 patients, unrelated umbilical cord blood in 3 patients, and a mismatched related donor in I patient. Three patients underwent a second HSCT Conditioning was provided with a busulfan- and cyclophosphamide-based regimen, with anti-thymocyte immunoglobulin added for the cord blood transplant recipients. Graft-versus-host-disease prophylaxis consisted of cyclosporine A and methotrexate for related donor recipients (8 patients) and cyclosporine A and prednisone for cord blood transplant recipients (3 patients). The overall event-free survival rate was 91% with a median follow-up of 94 months (range, 15-223 months). Ten patients had immune reconstitution and demonstrated sustained engraftment that ranged from 11% to 100% for lymphoid lines and from 0% to 100% for myeloid lines. HSCT from a matched related donor or unrelated cord blood provided excellent outcome, and mixed chimerism appeared satisfactory to prevent recurrent infections.

• 出版日期2011-8