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Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins

机译:白细胞黏附缺乏症1型(LAD-1)/变体。一种新型的免疫缺陷综合症,其特征是β2整合素功能异常

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摘要

Leukocyte adhesion deficiency (LAD) is characterized by the inability of leukocytes, in particular neutrophilic granulocytes, to emigrate from the bloodstream towards sites of inflammation. Infectious foci are nonpurulent and may eventually become necrotic because of abnormal wound healing. LAD-1 is characterized by the absence of the beta2 integrins (CD11/CD18) on leukocytes. When expression is completely absent, patients often die within the first year. However, low levels of beta2 expression may result in a milder clinical picture of recurrent infection, which offers a better prognosis. In this paper, we describe the in vivo and in vitro findings on a patient with clinical features of a mild LAD-1 disorder, i.e., suffering from bacterial infections without apparent pus formation in the presence of a striking granulocytosis, showing no delayed-type hypersensitivity reaction upon skin testing, no specific antibody generation, but normal in vitro T cell proliferation responses after immunization. Expression levels of CD11/CD18 proteins were completely normal, but leukocyte activation did not result in CD11/ CD18 activation and high-avidity ligand-binding. In vitro chemotaxis and endothelial transmigration of the neutrophils as well as leukocyte aggregation responses were almost absent. On the other hand, beta1 and beta3 integrin-mediated adhesion functions were completely normal. During follow-up, a bleeding tendency related to decreased beta3 activation became clinically apparent, different from previously described cellular adhesion molecule variants. Therefore, this is the first well-documented case of a clinical combined immunodeficiency syndrome that results from nonfunctional CD11/CD18 molecules, and thus designated LAD-1/ variant
机译:白细胞粘附缺陷(LAD)的特征在于白细胞,特别是嗜中性粒细胞不能从血流向炎症部位迁移。感染灶是非化脓性的,并且由于伤口愈合异常而最终可能坏死。 LAD-1的特征是白细胞上不存在beta2整合素(CD11 / CD18)。当完全没有表达时,患者通常会在第一年内死亡。但是,低水平的beta2表达可能会导致较轻的复发感染临床症状,从而提供更好的预后。在本文中,我们描述了具有轻度LAD-1疾病临床特征的患者的体内和体外发现,即患有明显感染性粒细胞增多症而无明显脓液形成的细菌感染,没有延迟型皮肤测试后出现超敏反应,没有特异性抗体生成,但免疫后正常的体外T细胞增殖反应。 CD11 / CD18蛋白的表达水平完全正常,但白细胞活化未导致CD11 / CD18活化和高亲和力配体结合。几乎没有嗜中性粒细胞的体外趋化性和内皮转运以及白细胞聚集反应。另一方面,beta1和beta3整合素介导的粘附功能是完全正常的。在随访期间,与先前描述的细胞粘附分子变异不同,与β3活化降低有关的出血趋势在临床上变得明显。因此,这是由无功能的CD11 / CD18分子导致的临床综合免疫缺陷综合症的第一个有据可查的病例,因此被命名为LAD-1 /

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