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
スポンサーリンク
概要
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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 gp91phox 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.
- 社団法人 日本内科学会の論文
著者
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Matsuda Masayuki
Department of Internal Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
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Gono Takahisa
Department of Internal Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
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Nunoi Hiroyuki
Department Of Pediatrics Kumamoto University School Of Medicine
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Mizukami Tomoyuki
Department Of Earth And Planetary Sciences Nagoya University
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Agematsu Kazunaga
Department Of Infection And Host Defense Shinshu University Graduate School Of Medicine Shinshu Univ
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Ikeda Shu-ichi
Department Of Internal Medicine (neurology And Rheumatology) Shinshu University School Of Medicine
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Yasui Kozo
Department Of Pediatrics Nagano Red Cross Hospital
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Hidaka Fumio
Department Of Pediatrics Miyazaki Medical College University Of Miyazaki
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Yamaura Maki
Department Of Dermatology Shinshu University School Of Medicine
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Kubota Takeo
Department Of Epigenetic Medicine Interdisciplinary Graduate School Of Medicine And Engineering University Of Yamanashi
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Gono Takahisa
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
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Yazaki Masahide
Department of Internal Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
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Kubota Takeo
Department of Epigenetic Medicine, Faculty of Medicine, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi
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