Correction of leukocyte adhesion deficiency type II with oral fucose
Correction of leukocyte adhesion deficiency type II with oral fucose
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DOI：
10.1182/blood.v94.12.3976.424k06_3976_3985
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发表时间：
1999-12-15
期刊：
影响因子：
20.3
通讯作者：
Vestweber, D
中科院分区：
文献类型：
--
作者：
Marquardt, T;Lühn, K;Vestweber, D
我们描述了一种简单、无创且有效的治疗 II 型白细胞粘附缺陷 (LAD II) 的方法，这是一种罕见的遗传性岩藻糖代谢疾病。这种疾病会导致中性粒细胞表面缺乏基于碳水化合物的选择素配体而导致的免疫缺陷，以及严重的精神运动和智力障碍。 LAD II 成纤维细胞中的岩藻糖基化缺陷可以通过向培养基中添加 L-岩藻糖来纠正。这促使我们对 LAD II 患者开始膳食岩藻糖治疗。该患者口服岩藻糖可诱导中性粒细胞上岩藻糖基化选择素配体的表达以及血清糖蛋白的核心岩藻糖基化。在 9 个月的治疗期间，感染和发烧消失，升高的中性粒细胞计数恢复正常，精神运动能力得到改善。 (C) 1999 年，美国血液学会。
We describe a simple, noninvasive, and effective therapy for leukocyte adhesion deficiency type II (LAD II), a rare inherited disorder of fucose metabolism. This disorder leads to an immunodeficiency caused by the absence of carbohydrate-based selectin ligands on the surface of neutrophils as well as to severe psychomotor and mental retardation. The fucosylation defect in LAD II fibroblasts can be corrected by addition of L-fucose to the culture medium. This prompted us to initiate dietary fucose therapy on a patient with LAD II. Oral supplementation of fucose in this patient induced the expression of fucosylated selectin ligands on neutrophils and core fucosylation of serum glycoproteins. During 9 months of treatment, infections and fever disappeared, elevated neutrophil counts returned to normal, and psychomotor capabilities improved. (C) 1999 by The American Society of Hematology.