Fischer A, Lisowska-Grospierre B, Anderson D C, Springer T A
Inserm U 132, Hôpital des Enfants-Malades, Paris, France.
Immunodefic Rev. 1988;1(1):39-54.
Leukocyte adhesion deficiency disease is characterized by a mutation in the gene encoding the beta-subunit shared by three adhesive heterodimers, LFA-1, Mac-1 (CR3) and p150,95 expressed by leukocytes. An absent or abnormal beta-subunit leads to defective expression of the three heterodimers. Severe and moderate phenotypes of the disease are defined by absent and low surface expression of the adhesion molecules. The disease causes an inability of phagocytic cells to adhere to endothelial cells and thereafter to migrate to sites of infections. Severe widespread life-threatening bacterial and fungal infections are the consequences of this abnormality. Cure of the disease can be effected by allogeneic bone marrow transplantation. T-lymphocyte adhesion to various cells is also impaired; its consequences are, however, limited because of the existence of other T-cell-adhesive pathways. Nevertheless, haploidentical bone marrow graft rejection does not occur in the severe phenotype, an indication for possible immunotherapy with LFA-1 specific monoclonal antibodies.
白细胞黏附缺陷病的特征是编码三种黏附异二聚体（淋巴细胞功能相关抗原-1（LFA-1）、巨噬细胞抗原-1（Mac-1，即CR3）和p150,95）所共有的β亚基的基因突变，这些异二聚体由白细胞表达。β亚基缺失或异常会导致这三种异二聚体的表达缺陷。该疾病的重度和中度表型由黏附分子的表面表达缺失和降低来定义。该疾病导致吞噬细胞无法黏附于内皮细胞，进而无法迁移至感染部位。严重且广泛的危及生命的细菌和真菌感染就是这种异常情况的后果。该疾病可通过同种异体骨髓移植治愈。T淋巴细胞对各种细胞的黏附也受损；然而，由于存在其他T细胞黏附途径，其后果有限。尽管如此，重度表型中不会发生单倍体相合骨髓移植排斥反应，这表明可能可用LFA-1特异性单克隆抗体进行免疫治疗。
