未经证实:信号转导和转录激活因子1(STAT1)功能获得(GOF)突变的特征是慢性粘膜皮肤念珠菌病和自身免疫性疾病。1型糖尿病是特征明确的自身免疫病症之一。
未经证实:我们报道了一个5岁男孩,他表现为多饮和多尿,有慢性口腔粘膜皮肤念珠菌病病史,反复呼吸道感染,肝脾肿大,肝功能异常.遗传分析确定了杂合的GOF突变(c.86A>G,p.Y289C)在STAT1中。
未经评估:在随访期间,男孩服用了各种药物,包括保持血糖稳定的胰岛素,静脉注射免疫球蛋白和抗真菌药治疗复发性感染,和抗结核药物(异烟肼,利福平)对抗结核感染。他没有出现反复感染,但是慢性口腔粘膜皮肤念珠菌病仍然每月发生两次。血糖水平得到良好控制。
UNASSIGNED:本文说明了STAT1突变的早期诊断和鉴定对于评估疾病的严重程度和确定合理的治疗方案至关重要。
UNASSIGNED: 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.
UNASSIGNED: 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 STAT1.
UNASSIGNED: 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.
UNASSIGNED: This article illustrates that early diagnosis and identification of STAT1 mutation are essential for assessing the severity of the disease and determining reasonable treatment options.