title: Allogeneic stem cell transplantation using myeloablative and reduced-intensity conditioning in patients with major histocompatibility complex class II deficiency.
abstract: Major histocompatibility complex class II (MHC II) deficiency is a rare combined immunodeficiency disease. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment. Between June 1994 and February 2007, 30 children with MHC II deficiency underwent a total of 33 HSCT procedures. Median age at HSCT was 27 months. The stem cell source was unmanipulated bone marrow from HLA-identical related donors in 26 patients, one HLA antigen-mismatched bone marrow in 3 patients, and unrelated umbilical cord blood in 1 patient. Conditioning was with one of 3 myeloablative regimens--regimen A (18 patients): busulfan (Bu), cyclophosphamide (Cy), and etoposide; regimen B (2 patients): Bu, Cy, and antithymocyte globulin (ATG); or regimen C (1 patient): CY and total body irradiation (TBI)--or with a reduced-intensity regimen (12 patients): fludarabine, melphalan, and ATG. The median CD34 cell dose was 8.3 x 10(6)/kg. Twenty patients experienced immune reconstitution and had sustained engraftment ranging from 9% to 100% for lymphoid lines and from 5% to 100% for myeloid lines that were significant to cure the disease. The overall disease-free survival rate was 66% and 76% after HLA-identical HSCT, with a median follow-up of 6.3 years, which is higher than previously reported. In HLA-identical transplant recipients, reliable donor stem cell engraftment and immune reconstitution were achieved through myeloablative or reduced-intensity conditioning. Further studies and long-term follow-up are needed to determine the appropriate conditioning regimen.
authors.affiliation: Section of Pediatric Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. hamoudalmousa@kfshrc.edu.sa
authors.forename: Hamoud
authors.initials: H
authors.lastname: Al-Mousa
authors.forename: Zamil
authors.initials: Z
authors.lastname: Al-Shammari
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: Al-Ghonaium
authors.forename: Hasan
authors.initials: H
authors.lastname: Al-Dhekri
authors.forename: Saleh
authors.initials: S
authors.lastname: Al-Muhsen
authors.forename: Bander
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: Abdullah
authors.initials: A
authors.lastname: Al-Jefri
authors.forename: Ali
authors.initials: A
authors.lastname: Al-Ahmari
authors.forename: Mouhab
authors.initials: M
authors.lastname: Ayas
authors.forename: Hassan
authors.initials: H
authors.lastname: El-Solh
mesh_terms: D001772:Blood Cell Count; D016026:Bone Marrow Transplantation / Q000009:adverse effects / Q000379:methods; D002648:Child; D002675:Child, Preschool; D018572:Disease-Free Survival; D005260:Female; D006085:Graft Survival / Q000276:immunology; D006086:Graft vs Host Disease / Q000175:diagnosis / Q000517:prevention & control; D006680:HLA Antigens / Q000276:immunology; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods*; D006648:Histocompatibility / Q000276:immunology; D000949:Histocompatibility Antigens Class II; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D007153:Immunologic Deficiency Syndromes / Q000276:immunology / Q000601:surgery*; D007223:Infant; D007231:Infant, Newborn; D018655:Lymphocyte Count; D008214:Lymphocytes / Q000166:cytology / Q000276:immunology; D008297:Male; D019653:Myeloablative Agonists / Q000627:therapeutic use*; D012189:Retrospective Studies; D018183:Transplantation Chimera / Q000276:immunology; D019172:Transplantation Conditioning / Q000379:methods*; D014184:Transplantation, Homologous; D016896:Treatment Outcome
chemical_list: D006680:HLA Antigens; D000949:Histocompatibility Antigens Class II; D007074:Immunoglobulin G; D019653:Myeloablative Agonists