An abnormality of neutrophil adhesion: autosomal recessive inheritance associated with missing neutrophil glycoproteins.
An abnormality of neutrophil adhesion: autosomal recessive inheritance associated with missing neutrophil glycoproteins.
复制标题
中性粒细胞粘附异常：与中性粒细胞糖蛋白缺失相关的常染色体隐性遗传。
作者：
K. Kobayashi;K. Fujita;F. Okino;T. Kajii
一名3个月大的日本女婴，自出生以来因铜绿假单胞菌引起的持续性脐部感染和复发性细菌性皮肤感染，发现中性粒细胞粘附在表面上严重异常，导致缺乏趋化性和吞噬作用轻度受损。中性粒细胞杀菌活性和硝基四氮蓝还原均未受损。从病人的中性粒细胞膜蛋白的十二烷基硫酸钠聚丙烯酰胺凝胶电泳揭示了缺乏两个糖蛋白，一个分子量（摩尔重量）为110 K的细胞表面上，和其他的分子量为115 K，可能在细胞内膜。两种糖蛋白的水平低于正常的中性粒细胞从父母双方，与110 K糖蛋白减少到正常水平的一半。这些发现表明，这种疾病是以常染色体隐性方式遗传的。
A 3-month-old Japanese female infant, with persistent navel infection due to Pseudomonas aeruginosa since birth and recurrent bacterial skin infections, was found to have a severe abnormality of neutrophil adhesion on a surface, leading to a lack of chemotaxis and a mild impairment of phagocytosis. Neither neutrophil bactericidal activity nor nitroblue tetrazorium reduction was impaired. Sodium dodecyl sulfate polyacrylamide-gel electrophoresis of neutrophil membrane proteins from the patient disclosed the lack of two glycoproteins, one with a molecular weight (mol wt) of 110 K on the cell surface, and the other with mol wt of 115 K, possibly in intracellular membranes. The levels of the two glycoproteins were below normal in neutrophils from both parents, with the 110 K glycoprotein reduced to half the normal level. These findings indicate that the disease was inherited in an autosomal recessive fashion.