title: Severe graft versus host disease in a patient with globoid cell leukodystrophy following umbilical cord blood transplantation: resemblance to the twitcher mouse model.
abstract: Bone marrow transplantation (BMT) is currently the treatment of choice for patients with globoid cell leukodystrophy (GLD), particularly in the early phases of the disease. Elevated interleukin (IL)-6 levels in the central nervous system of the twitcher mouse, an animal model for GLD, have been held responsible for severe graft versus host disease (GVHD), and IL-6 knock-out mice have shown lower incidence of GVHD after BMT. Here we report an eight-year-old girl with late-onset advanced stage of GLD who developed severe GVHD and died following unrelated 5/6 matched cord blood transplantation. Serum IL-6 levels pre-BMT and at day +38 were elevated (20 pg/ml and 15 pg/ml, respectively). This observation may support the findings in twitcher mice suggesting a possible role for IL-6 in the pathogenesis of GVHD in transplanted patients with GLD.
authors.affiliation: Unit of Bone Marrow Transplantation, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Maide
authors.initials: M
authors.lastname: Ozen
authors.forename: Duygu
authors.initials: D
authors.lastname: Uçkan
authors.forename: Mualla
authors.initials: M
authors.lastname: Cetin
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
authors.forename: Murat
authors.initials: M
authors.lastname: Tuncer
authors.forename: Banu
authors.initials: B
authors.lastname: Anlar
mesh_terms: D001788:Blood Grouping and Crossmatching; D002648:Child; D017809:Fatal Outcome; D005260:Female; D005312:Fetal Blood / Q000637:transplantation*; D006086:Graft vs Host Disease / Q000209:etiology / Q000503:physiopathology*; D006801:Humans; D015850:Interleukin-6 / Q000097:blood; D007965:Leukodystrophy, Globoid Cell / Q000503:physiopathology* / Q000628:therapy
chemical_list: D015850:Interleukin-6