• Miya Andou, Masaki Tominaga, Ryuta Nishikomori, Kenji Gotoh, Nobukazu Komatsu, Masanobu Matsuoka, Tomotaka Kawayama, and Tomoaki Hoshino.
• Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan.
• Intern. Med. 2024 May 1; 63 (9): 126912711269-1271.

AbstractA 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.

14 keywords...

hide…