title: Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type 1: a single center experience.
abstract: 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 1 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.
authors.affiliation: Section of Pediatric Allergy/Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. haldhekri@kfshrc.edu.sa
authors.forename: Hasan
authors.initials: H
authors.lastname: Al-Dhekri
authors.forename: Hamoud
authors.initials: H
authors.lastname: Al-Mousa
authors.forename: Mouhab
authors.initials: M
authors.lastname: Ayas
authors.forename: Saleh
authors.initials: S
authors.lastname: Al-Muhsen
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: Al-Ghonaium
authors.forename: Ghanam
authors.initials: G
authors.lastname: Al-Ghanam
authors.forename: Bandar
authors.initials: B
authors.lastname: Al-Saud
authors.forename: Rand
authors.initials: R
authors.lastname: Arnaout
authors.forename: Amal
authors.initials: A
authors.lastname: Al-Seraihy
authors.forename: Ali
authors.initials: A
authors.lastname: Al-Ahmari
authors.forename: Abdullah
authors.initials: A
authors.lastname: Al-Jefri
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Mahr
authors.forename: Hassan
authors.initials: H
authors.lastname: El-Solh
mesh_terms: D046528:Chimerism; D016572:Cyclosporine / Q000008:administration & dosage; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007166:Immunosuppressive Agents / Q000008:administration & dosage; D007223:Infant; D007231:Infant, Newborn; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000276:immunology / Q000601:surgery*; D008297:Male; D012189:Retrospective Studies; D014019:Tissue Donors; D019172:Transplantation Conditioning / Q000379:methods; D014184:Transplantation, Homologous; D016896:Treatment Outcome
chemical_list: D007166:Immunosuppressive Agents; D016572:Cyclosporine