Leukocyte Adhesion Deficiency II: Therapy and Genetic Defect
Leukocyte Adhesion Deficiency II: Therapy and Genetic Defect
复制标题
白细胞粘附缺陷 II：治疗和遗传缺陷
作者：
M. Wild;K. Lühn;T. Marquardt;D. Vestweber
白细胞粘附缺陷II （LAD II）是一种罕见的先天性疾病，是由糖缀合物集中缺陷引起的。低聚焦结构包括粘附分子选择素家族的配体。这导致白细胞粘附缺陷导致免疫缺陷。此外，LAD II患者表现出严重的智力和生长发育迟缓，提示焦点在发育中的作用。最近，一名LAD II患者接受口服补灶治疗。这种简单的疗法恢复了选择素配体并纠正了免疫缺陷。然而，在另一名患者中，治疗方案没有效果，表明后者患者的生化缺陷有所不同。LAD II的遗传缺陷现在已经定位于一个编码GDP聚焦转运蛋白的基因，该转运蛋白将GDP聚焦蛋白转移到高尔基体中，高尔基体将聚焦蛋白转移到糖缀合物上。在一些LAD II患者中检测到该基因的点突变，使转运蛋白功能失活。因此，LAD II代表了第一个基于核苷酸糖转运体功能异常的发育和免疫缺陷。
Leukocyte adhesion deficiency II (LAD II) is a rare congenital disease which is caused by a defect in fucosylation of glycoconjugates. Hypofucosylated structures include ligands for the selectin family of adhesion molecules. This results in a leukocyte adhesion defect causing an immunodeficiency. In addition, LAD II patients show severe mental and growth retardations suggesting a role of fucose in development. Recently, a LAD II patient was treated with oral supplementation of fucose. This simple therapy restored selectin ligands and corrected the immunodeficiency. However, in another patient the treatment protocol had no effect indicating that the biochemical defect in the latter patient is somewhat different. The genetic defect in LAD II has now been located to a gene encoding a GDP-fucose transporter which gates GDP-fucose into the Golgi where fucose is transferred onto glycoconjugates. Point mutations have been detected in this gene in several LAD II patients, which inactivate the transporter function. Thus, LAD II represents the first developmental and immune defect that is based on a malfunctioning nucleotide sugar transporter.
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II 型白细胞粘附缺陷患者的体内中性粒细胞和淋巴细胞功能研究。
影响因子：
20.3
作者：
Price,TH;Ochs,HD;Gershoni-Baruch,R;Harlan,JM;Etzioni,A
通讯作者：
Etzioni,A
高尔基体核苷酸糖转运与白细胞粘附缺陷II．
DOI：
10.1172/jci13480
发表时间：
2001
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Hirschberg,CB
通讯作者：
Hirschberg,CB
含岩藻糖的糖脂是啮齿类动物胚胎脑发育过程中的阶段和区域特异性抗原。
DOI：
10.1073/pnas.82.9.3045
发表时间：
1985
影响因子：
11.1
作者：
Yamamoto,M;Boyer,AM;Schwarting,GA
通讯作者：
Schwarting,GA
影响因子：
20.3
作者：
Marquardt, T;Lühn, K;Vestweber, D
通讯作者：
Vestweber, D