Rösen-Wolff A, Soldan W, Heyne K, Bickhardt J, Gahr M, Roesler J
Department of Pediatrics, University Hospital Carl Gustav Carus, Fetscherstrasse 74, 01037 Dresden, Germany.
Ann Hematol. 2001 Feb;80(2):113-5. doi: 10.1007/s002770000230.
Chronic granulomatous disease (CGD) is an inherited disorder characterized by the inability of phagocytes to generate normal amounts of superoxide (O2-), leaving patients susceptible to life-threatening infections. It was previously assumed that once carriers of the X-linked form of CGD were found to have 30% or more of functionally normal neutrophils, they would be free of risk for infection because the lyonization ratio was believed to be constant. Our report strongly contradicts this assumption. A 45-year-old X-CGD carrier had approximately 40% of normal neutrophils in her peripheral blood at age 21 years. Recently, she contracted a life-threatening pulmonary infection with Aspergillus fumigatus. After recovery, the ratio of normal-to-nonfunctional neutrophils was re-evaluated. She was found to have only 6-8% of normal neutrophils, suggesting that a striking decrease in the number of normal cells over the past 25 years was the reason for an increased susceptibility to Aspergillus infection. We conclude that age-related acquired skewing of the lyonization ratio can result in an increased susceptibility to life-threatening infections in X-CGD carriers.
慢性肉芽肿病（CGD）是一种遗传性疾病，其特征是吞噬细胞无法产生正常量的超氧化物（O2-），使患者易受危及生命的感染。以前认为，一旦发现X连锁型CGD携带者具有30%或更多功能正常的中性粒细胞，他们就没有感染风险，因为莱昂化比率被认为是恒定的。我们的报告强烈反驳了这一假设。一名45岁的X-CGD携带者在21岁时外周血中约有40%的正常中性粒细胞。最近，她感染了由烟曲霉引起的危及生命的肺部感染。康复后，重新评估了正常与无功能中性粒细胞的比例。发现她只有6-8%的正常中性粒细胞，这表明在过去25年中正常细胞数量的显著减少是对曲霉感染易感性增加的原因。我们得出结论，与年龄相关的莱昂化比率后天性偏差可导致X-CGD携带者对危及生命的感染易感性增加。
