STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.

Autor: Andou M; Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan., Tominaga M; Department of Community Medicine, Kurume University School of Medicine, Japan., Nishikomori R; Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan., Gotoh K; Department of Infection Control and Prevention, Kurume University School of Medicine, Japan., Komatsu N; Department of Immunology, Kurume University School of Medicine, Japan., Matsuoka M; Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan., Kawayama T; Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan., Hoshino T; Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan.
Jazyk: angličtina
Zdroj: Internal medicine (Tokyo, Japan) [Intern Med] 2024 May 01; Vol. 63 (9), pp. 1269-1271. Date of Electronic Publication: 2023 Sep 29.
DOI: 10.2169/internalmedicine.2350-23
Abstrakt: 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.
Databáze: MEDLINE