Autosomal dominant hyper-IgE syndrome: When hematopoietic stem cell transplantation should be considered?

被引：17
|
作者：
Oikonomopoulou, Christina [1 ]
Goussetis, Evgenios [1 ]
机构：
[1] Aghia Sophia Childrens Hosp, Stem Cell Transplant Unit, 1 Thivon St, Athens 11527, Greece
来源：
PEDIATRIC TRANSPLANTATION | 2020年 / 24卷 / 05期
关键词：
autosomal dominant hyper-IgE syndrome; hematopoietic stem cell transplantation; CHRONIC GRANULOMATOUS-DISEASE; LYMPHOMA; PATIENT; PATHOGENESIS; MUTATIONS;
D O I：
10.1111/petr.13699
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
AD-HIES or Job's syndrome is a primary immunodeficiency, caused by dominant negative mutations in signal transducer and activator of transcription (STAT) 3. The syndrome is characterized by infectious, immunologic, and non-immunologic manifestations and is associated with significant morbidity, mortality, and development of lymphomas. What has not yet been elucidated is the role of HSCT in the disease treatment spectrum. We review published cases of patients with AD-HIES that underwent HSCT and attempt to clarify at what stage HSCT should be considered and what are the complications.
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页数：6
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