title: Hematopoietic stem cell transplant for hyper-IgM syndrome due to CD40L defects: A single-center experience.
abstract: HIGMI is a disease with a high risk for morbidity and mortality. HSCT has been shown to be a curative option. This study retrospectively reviewed and analyzed data from five patients who received HSCT at King Faisal Specialist Hospital & Research Centre (KFSH&RC) in Riyadh, Saudi Arabia, between 2005 and 2013. Five patients with HIGMI syndrome underwent HSCT at a median age of 41 months (range, 9-72 months). The median time from diagnosis to transplantation was 30 months (range, 5-58 months). For all five patients, the donors were HLA-identical siblings. In three patients, the conditioning regimen was composed of BU and CY. Fludarabine and melphalan with either ATG or alemtuzumab was used in two patients. For GVHD prophylaxis, cyclosporine was used in two patients, and the combination of cyclosporine and MTX was used in three patients. The survival rate was 100%, with a median follow-up of 69 months (range, 13-100 months). All patients engrafted. Two patients developed acute GVHD. Four patients showed complete immune recovery with positive CD40L expression in activated T cells and discontinued IVIG replacement. HSCT in early stage from an HLA-matched sibling donor is potentially effective at curing the disease.
authors.affiliation: Section of Pediatric Allergy/Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.|Colleges of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Bandar
authors.initials: B
authors.lastname: Al-Saud
authors.affiliation: Section of Pediatric Allergy/Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.|Colleges of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Hamoud
authors.initials: H
authors.lastname: Al-Mousa
authors.affiliation: Colleges of Medicine, Alfaisal University, Riyadh, Saudi Arabia.|Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Ali
authors.initials: A
authors.lastname: Al-Ahmari
authors.affiliation: Section of Pediatric Allergy/Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: Al-Ghonaium
authors.affiliation: Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Mouhab
authors.initials: M
authors.lastname: Ayas
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Safa
authors.initials: S
authors.lastname: Alhissi
authors.affiliation: Section of Pediatric Allergy/Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.|Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Saleh
authors.initials: S
authors.lastname: Al-Muhsen
authors.affiliation: Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Amal
authors.initials: A
authors.lastname: Al-Seraihy
authors.affiliation: Section of Pediatric Allergy/Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.|Colleges of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Rand
authors.initials: R
authors.lastname: Arnaout
authors.affiliation: Section of Pediatric Allergy/Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Hasan
authors.initials: H
authors.lastname: Al-Dhekri
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Abbas
authors.initials: A
authors.lastname: Hawwari
mesh_terms: D023201:CD40 Ligand / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005819:Genetic Markers; D006086:Graft vs Host Disease; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D053307:Hyper-IgM Immunodeficiency Syndrome, Type 1 / Q000175:diagnosis / Q000235:genetics / Q000401:mortality / Q000628:therapy*; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D019172:Transplantation Conditioning; D016896:Treatment Outcome
chemical_list: D005819:Genetic Markers; D023201:CD40 Ligand
keywords: cryptosporidium; neutropenia; primary immunodeficiency; stems cell transplantation