Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan.
Department of Community Medicine, Kurume University School of Medicine, Japan.
Intern Med. 2024 May 1;63(9):1269-1271. doi: 10.2169/internalmedicine.2350-23. Epub 2023 Sep 29.
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.
一位 30 岁男性，表现出口腔念珠菌病和肺脓肿病史。他在儿童时期反复出现口腔和皮肤念珠菌病，但长时间没有任何感染。因此，怀疑存在免疫缺陷。T 和 B 淋巴细胞及自然杀伤细胞计数以及免疫球蛋白水平正常。人类免疫缺陷病毒检测结果为阴性。因此，我们怀疑为慢性黏膜皮肤念珠菌病（CMC）。通过外显子组测序检测到导致 CMC 的主要原因——信号转导和转录激活因子（STAT）突变。大多数 STAT1 突变病例在儿童期诊断，但也有少数在成年期诊断，因为念珠菌感染可能不严重。
