title: Fatal outcome despite full lympho-hematopoietic reconstitution after allogeneic stem cell transplantation in atypical ataxia telangiectasia.
abstract: Allogeneic hematopoietic stem cell transplantation (HSCT) has not been a therapeutic option in ataxia telangiectasia (AT) due to overwhelming toxicity of conditioning in the context of the global DNA repair deficiency. Furthermore HSCT is unable to cure neurological involvement of AT. We report on a Turkish child with a Hyper IgM phenotype disorder, in which clinical aspects of AT were absent and thus, AT not diagnosed. He was transplanted with a reduced toxicity, but full intensity conditioning regimen comprising treosulfan, fludarabine and ATG. The peritransplant period was uneventful and the patient was discharged at day +57. 8 months after HSCT, the patient developed hepatopathy with monoclonal gammopathy of unclear significance and died due to hepatic failure and encephalopathy at the age of 32 months. Post mortem high throughput sequencing revealed a mutation in the ATM gene.
authors.affiliation: Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine Universität Düsseldorf, Medical Faculty, 40225, Düsseldorf, Germany. sujal.ghosh@med.uni-duesseldorf.de
authors.forename: Sujal
authors.initials: S
authors.lastname: Ghosh
authors.forename: Friedhelm R
authors.initials: FR
authors.lastname: Schuster
authors.forename: Vera
authors.initials: V
authors.lastname: Binder
authors.forename: Tim
authors.initials: T
authors.lastname: Niehues
authors.forename: Stephan E
authors.initials: SE
authors.lastname: Baldus
authors.forename: Peter
authors.initials: P
authors.lastname: Seiffert
authors.forename: Hans-Jürgen
authors.initials: HJ
authors.lastname: Laws
authors.forename: Arndt
authors.initials: A
authors.lastname: Borkhardt
authors.forename: Roland
authors.initials: R
authors.lastname: Meisel
mesh_terms: D001260:Ataxia Telangiectasia / Q000097:blood / Q000150:complications* / Q000473:pathology; D002675:Child, Preschool; D017809:Fatal Outcome; D018380:Hematopoietic Stem Cell Transplantation; D006501:Hepatic Encephalopathy / Q000097:blood / Q000150:complications* / Q000473:pathology; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D008297:Male; D014184:Transplantation, Homologous
chemical_list: D007136:Immunoglobulins