Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization
Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization
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DOI：
10.1007/s002770000230
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发表时间：
2001-02-01
影响因子：
3.5
通讯作者：
Roesler, J
中科院分区：
文献类型：
--
作者：
Rösen-Wolff, A;Soldan, W;Roesler, J
慢性肉芽肿病（CGD）是一种遗传性疾病，其特征是吞噬细胞不能产生正常数量的超氧化物（O-2(-)），使患者容易受到危及生命的感染。以前的假设是，一旦发现x连锁型CGD的携带者有30%或更多的功能正常的中性粒细胞，他们就没有感染的风险，因为认为电离比是恒定的。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岁时外周血中有大约40%的正常中性粒细胞。最近，她感染了危及生命的烟曲霉肺部感染。恢复后，重新评估正常中性粒细胞与无功能中性粒细胞的比例。她的中性粒细胞只有正常的6-8%，这表明在过去的25年里，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，年龄相关的获得性游离化比的倾斜可能导致X-CGD携带者对危及生命的感染的易感性增加。
Chronic granulomatous disease (CGD) is an inherited disorder characterized by the inability of phagocytes to generate normal amounts of superoxide (O-2(-)), 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.