Suppr超能文献

白细胞黏附缺陷 III 型:一位非裔美国人患者的病例报告。

Leukocyte adhesion deficiency-III in an African-American patient.

机构信息

Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University, Atlanta, Georgia 30322, USA.

出版信息

Pediatr Blood Cancer. 2010 Jul 15;55(1):180-2. doi: 10.1002/pbc.22386.

Abstract

Leukocyte adhesion deficiency-III (LAD-III) is a rare disorder characterized by abnormal signaling to beta integrins, leading to defective leukocyte adhesion and chemotaxis and platelet aggregation. Here we present the first case of an African-American female infant with this disorder. She had history of multiple infections, bleeding, and leukocytosis since birth. She was successfully treated with allogeneic bone marrow transplant using a reduced intensity-conditioning regimen. Mutations in KINDLIN-3 have been described in LAD-III but the mutations in KINDLIN-3 in her case are unique.

摘要

白细胞黏附缺陷 III 型(LAD-III)是一种罕见的疾病,其特征为β整合素异常信号转导,导致白细胞黏附和趋化作用以及血小板聚集缺陷。在此,我们报告首例非洲裔美国女性婴儿患有这种疾病。她出生后即有多次感染、出血和白细胞增多病史。她成功地接受了异基因骨髓移植,采用了强度降低的预处理方案。在 LAD-III 中已经描述了 KINDLIN-3 突变,但她的 KINDLIN-3 突变是独特的。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验