Section of Pediatric Immunology, Hacettepe University, İhsan Doğramacı Children's Hospital , Ankara, Turkey,
J Clin Immunol. 2014 Nov;34(8):1009-14. doi: 10.1007/s10875-014-0091-7. Epub 2014 Sep 21.
Leukocyte adhesion deficiencies (LAD) are autosomal recessive immunodeficiency syndromes characterized by severe and recurrent bacterial infections, impaired wound healing and leukocytosis. Block in different steps in the leukocyte adhesion cascade causes different types of leukocyte adhesion deficiencies, LAD type I, II and III. In LAD type II, the rolling phase of the leukocyte adhesion cascade is affected due to mutations in the specific fucose transporter GFTP (GDP fucose transporter), causing defect in the biosynthesis of selectin ligands on leukocytes. Thus this syndrome is also called congenital disorder of glycosylation IIc (CGDIIc). LAD II/CGDIIc is very rare and has been diagnosed in nine children to date. Fever, leukocytosis, typical dysmorphic features, growth, psychomotor retardation and the Bombay blood group, are characteristic findings in patients. Here, we describe two Turkish siblings with a novel mutation in GFTP. They both have the characteristic features of the syndrome. The older sibling died of severe bacterial pneumonia at the age of 3 years. The younger sibling, diagnosed at the age of 3 months, responded to high dose oral fucose supplementation. Secundum atrial septal defect which was not described in previously reported patients, but present in both of our patients, may primarily related to the defect in fucosylation.
白细胞黏附缺陷症（LAD）是一种常染色体隐性免疫缺陷综合征，其特征为严重且反复发生的细菌感染、伤口愈合不良和白细胞增多。白细胞黏附级联反应的不同步骤受阻会导致不同类型的白细胞黏附缺陷症，即 LAD Ⅰ型、Ⅱ型和Ⅲ型。在 LAD Ⅱ型中，由于特异性岩藻糖转运蛋白（GDP 岩藻糖转运蛋白）GFTP 的突变，白细胞黏附级联的滚动阶段受到影响，导致白细胞上选择素配体的生物合成缺陷。因此，该综合征也称为先天性糖基化障碍 IIc（CGDIIc）。LAD II/CGDIIc 非常罕见，迄今为止已在 9 名儿童中确诊。发热、白细胞增多、典型的发育异常、生长、精神运动发育迟缓以及孟买血型，是患者的特征性发现。在这里，我们描述了 2 名具有 GFTP 新突变的土耳其同胞。他们都具有该综合征的特征性表现。年龄较大的同胞在 3 岁时因严重细菌性肺炎死亡。年龄较小的同胞在 3 个月时被诊断出该疾病，对高剂量口服岩藻糖补充治疗有反应。在以前报道的患者中未描述但在我们的两个患者中均存在的继发房间隔缺损，可能主要与岩藻糖基化缺陷有关。
