Strate M, Brandrup F, Wang P
Clin Genet. 1986 Sep;30(3):184-90. doi: 10.1111/j.1399-0004.1986.tb00593.x.
A case of chronic granulomatous disease (CGD) in a 32-year-old female with two episodes of opportunistic infections is described. At the age of 29 the patient was suspected to be a carrier of X-linked CGD on the basis of discoid lupus erythematosus-like skin lesions. No respiratory burst activity, as measured by phorbol myristate acetate stimulated superoxide production, was observed in isolated neutrophils of the patient. Membrane-rich fractions elicited no superoxide production in the presence of NADPH. The neutrophil content of cytochrome b-245 was within normal range. Family investigations revealed neither cellular abnormalities nor any history of skin diseases or opportunistic infections in first degree relatives. The parents of the patient were first cousins. On the basis of family history and the in-vitro assessment of neutrophil function, the patient is believed to have autosomal recessive CGD. The presented case illustrates that lupus erythematosus-like skin lesions are not restricted to female carriers of X-linked CGD, but may also be found in the autosomal recessive type of the disease.
本文描述了一例32岁女性慢性肉芽肿病（CGD）患者，该患者发生了两次机会性感染。29岁时，基于盘状红斑狼疮样皮肤病变，患者被怀疑为X连锁CGD携带者。在患者分离的中性粒细胞中，未观察到佛波酯肉豆蔻酸酯刺激产生超氧化物所测量的呼吸爆发活性。富含膜的组分在存在NADPH的情况下未引发超氧化物产生。细胞色素b - 245的中性粒细胞含量在正常范围内。家族调查显示，一级亲属中既无细胞异常，也无任何皮肤病或机会性感染病史。患者的父母是近亲。基于家族史和中性粒细胞功能的体外评估，该患者被认为患有常染色体隐性CGD。本病例表明，红斑狼疮样皮肤病变不仅限于X连锁CGD的女性携带者，也可能在该疾病的常染色体隐性类型中出现。
