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一个22岁的白细胞粘附缺陷的女性的变异性CD18表达I:临床病例和文献综述

Anastasiia V Bondarenko¹, Oksana R Boyarchuk², Inga S Sakovich³

¹Department of Pediatrics, Immunology, Infectious and Rare Diseases, European Medical School International European University Kyiv Ukraine.

Clinical case reports

|August 21, 2023

概括

部分白细胞粘附缺陷1型 (LAD-1) 是罕见的,导致免疫失衡和自身炎症问题. 这种病例在LAD-1患者中显示出可变的CD18表达,可能是由于替代的β2整合素异型.

科学领域:

遗传学和免疫学遗传学和免疫学
整合素的分子生物学
罕见疾病病理生理学

背景情况:

白细胞粘附性缺陷1型 (LAD-1) 是一种由ITGB2基因突变引起的自体衰退性疾病,影响CD18β2整合素子单元的表达.
LAD-1的严重程度与CD18表达水平相关:严重 (<2%),中度 (2%-30%) 和轻度 (>30%).
患者经常经历复发性感染,并可能发展为自发炎症并发症,如皮肤炎性疹.

关键词:

CD18表达式的表达方式白细胞粘附缺陷是白细胞的粘附缺陷.怀孕怀孕怀孕怀孕怀孕皮肤质的坏血性皮质 (pyoderma gangrenosum) 是一种疾病.

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