Cao Bingyan, Liu Meijuan, Zhao Yun, Gong Chunxiu
Department of Endocrinology, Genetic and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Department of Pediatric, Second Hospital of Shijiazhuang, Shijiazhuang, China.
Front Pediatr. 2022 Oct 11;10:1001290. doi: 10.3389/fped.2022.1001290. eCollection 2022.
Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations are characterized by chronic mucocutaneous candidiasis and autoimmune diseases. Type 1 diabetes mellitus is one of the well-characterized autoimmune conditions.
We reported a 5-year-old boy who presented with polydipsia and polyuria, with a medical history of chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and abnormal liver function. Genetic analysis identified a heterozygous GOF mutation (c.866A > G, p.Y289C) in .
Various medicines were given to the boy during the follow-up, including insulin to keep blood glucose stable, intravenous immunoglobulin and antifungal agents for recurrent infections, and antituberculosis drugs (isoniazid, rifampicin) to combat tuberculosis infection. He did not show recurrent infection, but chronic oral mucocutaneous candidiasis still occurred twice per month. The blood glucose level was well controlled.
This article illustrates that early diagnosis and identification of mutation are essential for assessing the severity of the disease and determining reasonable treatment options.
信号转导与转录激活因子1（STAT1）功能获得性（GOF）突变的特征为慢性黏膜皮肤念珠菌病和自身免疫性疾病。1型糖尿病是一种特征明确的自身免疫性疾病。
我们报告了一名5岁男孩，他出现多饮和多尿症状，有慢性口腔黏膜皮肤念珠菌病、反复呼吸道感染、肝脾肿大及肝功能异常的病史。基因分析在……中鉴定出一个杂合的GOF突变（c.866A＞G，p.Y289C）。
在随访期间给该男孩使用了多种药物，包括胰岛素以维持血糖稳定、静脉注射免疫球蛋白和抗真菌药物用于反复感染，以及抗结核药物（异烟肼、利福平）来对抗结核感染。他未出现反复感染，但慢性口腔黏膜皮肤念珠菌病仍每月发生两次。血糖水平得到良好控制。
本文表明，早期诊断和鉴定……突变对于评估疾病严重程度和确定合理的治疗方案至关重要。
