title: Bone marrow transplantation for CD40 ligand deficiency: a single centre experience.
abstract: BACKGROUND
  CD40 ligand (CD40L) deficiency is a rare X linked immunodeficiency disorder leading to recurrent bacterial infection, with cryptosporidial enteritis and subsequent hepatic cirrhosis. Bone marrow transplantation offers the only cure.
  
  
  OBJECTIVE
  To analyse retrospectively the outcome of bone marrow transplantation for this condition in one centre.
  
  
  METHODS
  A retrospective case note analysis was performed, identifying all patients with CD40L deficiency who had undergone bone marrow transplantation between May 1988 and December 2000. Details of pre-existing infection, pretransplantation immunological and infective data, transplant procedure (particularly donor type and HLA match), conditioning regimen, and marrow manipulation were analysed. Post-transplantation data including infective episodes, engraftment details, immune function, complications, and outcome were recorded.
  
  
  RESULTS
  Eight boys (age 1-14 years, median 5.75) had transplants. Six received T cell depleted unrelated donor marrow. Four survive and have normal immune function. Six had previous Pneumocystis carinii pneumonia and three had histological liver damage. Survival was associated with younger age at transplantation and normal liver histology.
  
  
  CONCLUSIONS
  Bone marrow transplantation can be curative in CD40L deficiency. Better outcome is associated with younger age at transplantation and normal liver histology.
authors.affiliation: Department of Paediatric Immunology, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne NE4 6BE, UK.
authors.forename: K
authors.initials: K
authors.lastname: Khawaja
authors.forename: A R
authors.initials: AR
authors.lastname: Gennery
authors.forename: T J
authors.initials: TJ
authors.lastname: Flood
authors.forename: M
authors.initials: M
authors.lastname: Abinun
authors.forename: A J
authors.initials: AJ
authors.lastname: Cant
mesh_terms: D000293:Adolescent; D000367:Age Factors; D016026:Bone Marrow Transplantation / Q000379:methods*; D023201:CD40 Ligand / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D008040:Genetic Linkage; D006650:Histocompatibility Testing / Q000379:methods; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications / Q000235:genetics / Q000628:therapy*; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007223:Infant; D008107:Liver Diseases / Q000209:etiology / Q000473:pathology; D008212:Lymphocyte Depletion; D008297:Male; D009894:Opportunistic Infections / Q000150:complications; D011020:Pneumonia, Pneumocystis / Q000150:complications; D011379:Prognosis; D012189:Retrospective Studies; D016896:Treatment Outcome; D014960:X Chromosome
chemical_list: D016756:Immunoglobulins, Intravenous; D023201:CD40 Ligand