Hayward A R, Harvey B A, Leonard J, Greenwood M C, Wood C B, Soothill J F
Lancet. 1979 May 26;1(8126):1099-101. doi: 10.1016/s0140-6736(79)91786-0.
In six infants, from two families. the umbilical cords were still attached at 3 weeks of age. Five of these developed severe local and disseminated infections from which four died. Two of these children were tested, and both, including the survivor, had defective neutrophil mobility; in the survivor this was improved in vitro and in vivo by ascorbic acid. It is suggested that a primary genetic defect of a contractile protein could explain the association. The sixth child, with delayed cord separation but normal neutrophil mobility and no excess of infections, who has survived without special treatments, also has mastocytosis, apparently inherited independently.
来自两个家庭的6名婴儿,在3周龄时脐带仍未脱落。其中5名婴儿发生了严重的局部和播散性感染,4名死亡。对其中2名儿童进行了检测,包括幸存者在内的两人中性粒细胞移动功能均有缺陷;在幸存者中,维生素C在体外和体内均改善了这种情况。提示收缩蛋白的原发性遗传缺陷可以解释这种关联。第六名儿童脐带脱落延迟,但中性粒细胞移动功能正常且无过多感染,未经特殊治疗存活下来,也患有肥大细胞增多症,显然是独立遗传的。