Kobayashi K, Fujita K, Okino F, Kajii T
Pediatrics. 1984 May;73(5):606-10.
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.
一名3个月大的日本女婴，自出生以来因铜绿假单胞菌导致肚脐持续感染，并反复出现细菌性皮肤感染，被发现其嗜中性粒细胞在表面的黏附存在严重异常，导致趋化性缺乏和吞噬作用轻度受损。嗜中性粒细胞的杀菌活性和硝基蓝四氮唑还原能力均未受损。对该患者嗜中性粒细胞膜蛋白进行十二烷基硫酸钠聚丙烯酰胺凝胶电泳显示，缺乏两种糖蛋白，一种在细胞表面分子量（mol wt）为110K，另一种可能在内细胞膜上，分子量为115K。父母双方嗜中性粒细胞中这两种糖蛋白的水平均低于正常，其中110K糖蛋白降至正常水平的一半。这些发现表明该疾病是以常染色体隐性方式遗传的。
