Scott H, Moynahan E J, Risdon R A, Harvey B A, Soothill J F
Arch Dis Child. 1975 Apr;50(4):311-7. doi: 10.1136/adc.50.4.311.
Members of four generations of a family had a defect of serum opsonization for yeast phagocytosis consistent with dominant inheritance. 2 were healthy, one had chronic osteomyelitis, and the fourth developed a fatal illness in infancy characterized by exfoliative dermatitis, diarrhoea, multiple bacterial infections, and failure to thrive, which resembled the two prevously reported cases with this opsonization defect. At necropsy the infant also had lymphoid depletion, which was possibly secondary, and massive histiocytic infiltration.
一个家族的四代成员存在酵母吞噬作用的血清调理素缺陷,符合显性遗传。2人健康,一人患有慢性骨髓炎,第四人在婴儿期患上一种致命疾病,其特征为剥脱性皮炎、腹泻、多种细菌感染和发育不良,这与之前报道的两例有这种调理素缺陷的病例相似。尸检时,该婴儿还出现了淋巴细胞耗竭,这可能是继发性的,以及大量组织细胞浸润。