title: Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan.
abstract: BACKGROUND
  The long-term outcome of X-linked hyper-IgM syndrome (XHIM) caused by mutations in CD40LG is poor, and the only curative treatment is hematopoietic stem cell transplantation (HSCT).
  
  
  OBJECTIVE
  We sought to determine the clinical features and factors affecting outcomes in patients with XHIM.
  
  
  METHODS
  We enrolled and retrospectively analyzed data from 56 Japanese patients with XHIM, including 29 patients who received HSCT.
  
  
  RESULTS
  The long-term survival rate was poor in those not undergoing HSCT (overall survival rate at 40 years of age, 28.2%). The overall survival rate of patients undergoing HSCT (n = 29) was significantly higher than that of those not undergoing HSCT (n = 27, P = .0231). Moreover, event-free and disease-free survival rates were significantly greater in patients 5 years old or younger at the time of transplantation (n = 14) than in older patients (n = 15).
  
  
  CONCLUSIONS
  On the basis of these results, we concluded that HSCT improved the outcomes of patients with XHIM and that an age of 5 years or younger was optimal for the timing of HSCT because persistent infections and severe organ damage were frequently observed in patients older than 6 years.
authors.affiliation: Department of Pediatrics, National Defense Medical College, Saitama, Japan.
authors.forename: Kanako
authors.initials: K
authors.lastname: Mitsui-Sekinaka
authors.affiliation: Department of Pediatrics, National Defense Medical College, Saitama, Japan; Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address: kimai.ped@tmd.ac.jp.
authors.forename: Kohsuke
authors.initials: K
authors.lastname: Imai
authors.affiliation: Department of Public Health, National Defense Medical College, Saitama, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Sato
authors.affiliation: Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Tomizawa
authors.affiliation: Department of Transfusion Medicine, Medical Hospital, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Michiko
authors.initials: M
authors.lastname: Kajiwara
authors.affiliation: Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Nagasawa
authors.affiliation: Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Morio
authors.affiliation: Department of Pediatrics, National Defense Medical College, Saitama, Japan.
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
mesh_terms: D000293:Adolescent; D000328:Adult; D023201:CD40 Ligand / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D053307:Hyper-IgM Immunodeficiency Syndrome, Type 1 / Q000401:mortality* / Q000601:surgery*; D017578:Immunoglobulin Class Switching / Q000235:genetics; D007223:Infant; D007564:Japan; D008297:Male; D009154:Mutation / Q000235:genetics; D012189:Retrospective Studies; D016019:Survival Analysis; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D023201:CD40 Ligand
keywords: CD40 ligand; Cryptococcus neoformans; Cryptosporidium parvum; Pneumocystis jirovecii; class-switch recombination; combined immunodeficiency; hematopoietic stem cell transplantation; hyper-IgM syndrome; primary immunodeficiency