J Clin Immunol. 2013 Nov;33(8):1276-84. doi: 10.1007/s10875-013-9939-5.
Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency due to a defect in one of the NADPH oxidase complex subunits; 70 % of cases are X-linked, due to a CYBB mutation, resulting in defective production of gp91PHOX. Female carriers of X-linked CGD have previously been considered to be unaffected. It is increasingly recognized that they may suffer from similar problems to CGD patients. This review will examine the literature about clinical manifestations of disease in X-linked carriers of CGD.
慢性肉芽肿病（CGD）是一种罕见的原发性免疫缺陷病，由于 NADPH 氧化酶复合物亚基之一的缺陷引起；70%的病例为 X 连锁，由于 CYBB 突变，导致 gp91PHOX 的产生缺陷。X 连锁 CGD 的女性携带者以前被认为不受影响。人们越来越认识到，她们可能患有与 CGD 患者相似的疾病。这篇综述将检查关于 X 连锁 CGD 携带者疾病临床表现的文献。
