Fatal outcome despite full lympho-hematopoietic reconstitution after allogeneic stem cell transplantation in atypical ataxia telangiectasia.

Journal of Clinical Immunology
Sujal GhoshRoland Meisel

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.

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Citations

Nov 7, 2012·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Sujal GhoshRoland Meisel
Jan 28, 2017·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Nienke J H van OsMichèl A A P Willemsen
Mar 21, 2017·Developmental Medicine and Child Neurology·Nienke J H van OsUNKNOWN A-T Study Group
Apr 11, 2017·The Journal of Allergy and Clinical Immunology·James SlackUNKNOWN Primary Immunodeficiency Treatment Consortium
Feb 24, 2018·Cell Death & Disease·Sara Di SienaManuela Pellegrini
Nov 14, 2018·Frontiers in Immunology·Shahrzad BakhtiarPeter Bader
Apr 20, 2018·Journal of Clinical Immunology·Margot A CousinEric W Klee
Feb 7, 2017·Expert Review of Clinical Immunology·Saleh GhiasyAsghar Aghamohammadi
Nov 12, 2019·Frontiers in Pediatrics·Anna K MeyerJordan K Abbott
Nov 5, 2020·Cancers·Bruna Sabino Pinho de OliveiraManuela Pellegrini
Nov 21, 2018·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Marek UssowiczKrzysztof Kałwak
Aug 3, 2021·British Journal of Haematology·Shahrzad BakhtiarStefan Zielen

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