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一名成年女性患者发生成人期发病的X连锁慢性肉芽肿病，由父源CYBB基因的新发突变和正常母源X染色体的偏态失活所致。

Adult onset X-linked chronic granulomatous disease in a woman patient caused by a de novo mutation in paternal-origin CYBB gene and skewed inactivation of normal maternal X chromosome.

作者信息

Gono Takahisa, Yazaki Masahide, Agematsu Kazunaga, Matsuda Masayuki, Yasui Kozo, Yamaura Maki, Hidaka Fumio, Mizukami Tomoyuki, Nunoi Hiroyuki, Kubota Takeo, Ikeda Shu-Ichi

机构信息

Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto.

出版信息

Intern Med. 2008;47(11):1053-6. doi: 10.2169/internalmedicine.47.0919. Epub 2008 Jun 2.

DOI:10.2169/internalmedicine.47.0919
PMID:18520120
Abstract

We report a 28-year-old woman patient suffering from refractory subcutaneous abscess. Stimuli-induced microbicidal reactive oxygen metabolites formation test of the patient's neutrophils revealed that only 9.6% of the neutrophils produced H2O2. DNA analysis of the CYBB that encodes gp91(phox) demonstrated that she was heterozygous for a nonsense mutation, 206Trp(TGG)/stop(TGA) and therefore, a diagnosis of adult onset X-linked chronic granulomatous disease was made. Our molecular biological study revealed that her disease was caused by a de novo mutation in the CYBB gene on the paternal-origin X-chromosome and a skewed inactivation of the normal maternal X-chromosome.

摘要

我们报告了一名患有难治性皮下脓肿的28岁女性患者。对该患者中性粒细胞进行刺激诱导的杀菌性活性氧代谢产物形成试验发现，只有9.6%的中性粒细胞产生过氧化氢。对编码gp91(phox)的CYBB进行DNA分析表明，她是206Trp(TGG)/stop(TGA)无义突变的杂合子，因此，诊断为成人型X连锁慢性肉芽肿病。我们的分子生物学研究表明，她的疾病是由父源X染色体上CYBB基因的新发突变以及正常母源X染色体的偏态失活引起的。

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