Reeves J D, August C S, Humbert J R, Weston W L
Pediatrics. 1979 Aug;64(2):202-6.
Since infants with malignant osteopetrosis often die from infection at an early age, we studied several aspects of host defense in five such infants. No consistent abnormality was found in cellular or humoral immunity. Monocyte cellular chemotaxis and phagocytosis were normal in four tested infants. However, all four of these infants had decreased intracellular bacterial killing by monocytes. Neutrophil function tests in five infants showed that two had defective bacterial phagocytosis and four had reduced cellular chemotaxis, decreased nitroblue tetrazolium reduction, and decreased intracellular bacterial killing. The severity of the decreased bactericidal capacity of granulocytes did not correlate with the number of circulating immature granulocytes. Our data suggest that abnormal function of circulating monocytes and granulocytes may contribute to impaired host resistance to infection. We postulate that this defect may reflect a more generalized inherited abnormality of phagocytic cells and perhaps osteoclasts that plays a role in the pathogenesis of infantile osteopetrosis.
由于患有恶性骨硬化症的婴儿常在幼年时死于感染，我们对五名此类婴儿的宿主防御的几个方面进行了研究。在细胞免疫或体液免疫方面未发现一致的异常。在四名接受测试的婴儿中，单核细胞的细胞趋化性和吞噬作用正常。然而，这四名婴儿的单核细胞对细胞内细菌的杀伤能力均下降。对五名婴儿进行的中性粒细胞功能测试表明，两名婴儿的细菌吞噬功能存在缺陷，四名婴儿的细胞趋化性降低、硝基蓝四氮唑还原能力下降以及细胞内细菌杀伤能力下降。粒细胞杀菌能力下降的严重程度与循环中未成熟粒细胞的数量无关。我们的数据表明，循环单核细胞和粒细胞的功能异常可能导致宿主抗感染能力受损。我们推测，这种缺陷可能反映了吞噬细胞以及可能在婴儿骨硬化症发病机制中起作用的破骨细胞更普遍的遗传性异常。
