著者

Miya Andou Masaki Tominaga Ryuta Nishikomori Kenji Gotou Nobukazu Komatsu Masanobu Matsuoka Tomotaka Kawayama Tomoaki Hoshino

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.2350-23, (Released:2023-09-29)

参考文献数

10

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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 STAT-1 mutations are diagnosed in childhood, but a few are diagnosed in adulthood because Candida infections may not be severe.