Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome

被引：7

作者：

Wozniak, Magdalena ^{[1
]}

Krzywon, Marta ^{[2
]}

Holda, Mateusz K. ^{[2
]}

Gozdzik, Jolanta ^{[1
,2
]}

机构：

[1] Univ Childrens Hosp Krakow, Dept Transplantat, Krakow, Poland

[2] Jagiellonian Univ, Coll Med, Polish Amer Inst Pediat, Dept Clin Immunol & Transplantat, Krakow, Poland

来源：

PEDIATRIC TRANSPLANTATION | 2015年 / 19卷 / 02期

关键词：

Nijmegen breakage syndrome; reduced-intensity conditioning; severe combined immunodeficiency; stem cell transplantation; umbilical cord blood; REGIMEN; DISEASES;

D O I：

10.1111/petr.12420

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

NBS is a rare autosomal recessive congenital disorder associated with chromosome instability caused by a mutation in the NBN gene (8q21). Clinical manifestations include microcephaly, growth retardation, combined immunodeficiency, and a strong predisposition to develop (mainly lymphatic) malignancies. There is no specific treatment for patients with NBS, and the prognosis is generally poor. The therapeutic option for some patients with NBS may be HSCT. We present a case of safe and successful non-myeloablative UCB transplantation in the 19th month of the life of a female child with NBS concomitant with SCID.

引用

页码：E51 / E55

页数：5

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