STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult
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- Andou Miya
- Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
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- Tominaga Masaki
- Department of Community Medicine, Kurume University School of Medicine, Japan
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- Nishikomori Ryuta
- Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan
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- Gotoh Kenji
- Department of Infection Control and Prevention, Kurume University School of Medicine, Japan
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- Komatsu Nobukazu
- Department of Immunology, Kurume University School of Medicine, Japan
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- Matsuoka Masanobu
- Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
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- Kawayama Tomotaka
- Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
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- Hoshino Tomoaki
- Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
抄録
<p>A 30-year-old man presented with oral candidiasis and a history of lung abscess. He experienced recurring oral and skin candidiasis in childhood but spent long periods without any infections. Therefore, immunodeficiency was suspected. T and B lymphocyte and natural killer cell counts as well as immunoglobulin levels were normal. Human immunodeficiency virus test results were negative. Therefore, we suspected chronic mucocutaneous candidiasis (CMC). The signal transducer and activator of transcription (STAT) mutation, the leading cause of CMC, was detected by exome sequencing. Most cases of STAT1 mutations are diagnosed in childhood, but a few are diagnosed in adulthood because Candida infections may not be severe. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 63 (9), 1269-1271, 2024-05-01
一般社団法人 日本内科学会