Fatal Outcome Despite Full Lympho-Hematopoietic Reconstitution After Allogeneic Stem Cell Transplantation in Atypical Ataxia Telangiectasia

被引：21

作者：

Ghosh, Sujal ^{[1
]}

Schuster, Friedhelm R. ^{[1
]}

Binder, Vera ^{[1
]}

Niehues, Tim ^{[2
]}

Baldus, Stephan E. ^{[3
]}

Seiffert, Peter ^{[4
]}

Laws, Hans-Juergen ^{[1
]}

Borkhardt, Arndt ^{[1
]}

Meisel, Roland ^{[1
]}

机构：

[1] Univ Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, Fac Med, D-40225 Dusseldorf, Germany

[2] Helios Hosp Krefeld, Dept Pediat, D-47805 Krefeld, Germany

[3] Univ Dusseldorf, Inst Pathol, Fac Med, D-40225 Dusseldorf, Germany

[4] Kathol Klinikum Duisburg, Dept Pediat, D-47166 Duisburg, Germany

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2012年 / 32卷 / 03期

关键词：

Stem cell transplantation; primary immunodeficiency; ataxia telangiectasia; liver disease;

D O I：

10.1007/s10875-012-9654-7

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页码：438 / 440

页数：3

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