GAIN-of-function mutationsRosacea is a chronic relapsing inflammatory skin and ocular disease, with typical onset between the ages of 30 and 60 years, and several associated comorbidities (1, 2). It has been linked to the dysregulation of the innate and adaptive immune responses(3). To date,...
Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation.DOI: 10.1016/j.gene.2016.04.006新生儿遗传病基因筛查先行者收录于合集 #基...
常染色体显性遗传(autosomal dominant,AD)的STAT-1基因功能获得性变异(gain of function,GOF)免疫缺陷主要表现为慢性皮肤黏膜念珠菌病(chronic mucocutaneous candidiasis disease,CMC)和自身免疫性疾病,但临床表现也不仅限于此。目前全世界共报道400余例患者,其中国内外报道中国人群AD-STAT1 GOF免疫缺陷20余例 [ 1 , ...
张雷,毛国顺,李桂涛,李利,赵晓峰,胡国生,朱影 (阜阳市人民医院儿科,阜阳 236000; 通讯作者,Email:ahfyww@126.com)摘要: 目的 探讨 3例慢性皮肤黏膜念珠菌病伴有自身免疫性疾病的信号传导与转录激活因子 1(signaltransducerandactivatoroftranscription1,STAT1)功能获得性突变(gainoffunction,GOF)的临床特征及基因特点。
In this study, we developed a novel mouse model with the clinical STAT1 gain-of-function mutation, T385M, in neurons. These mice were hyperactive and displayed neural hypoactivity with less neuron counts in the caudate putamen. Driving the STAT1 gain-of-function mutation exclusively in ...
LOF, lost of function; GOF, gain of function; GB, Granzyme B; MHC class I, Major histocompatibility complex class I; BM, bone marrow; H, human deficiency; M, knockout mice; M*, knock-in mice; M^, transgenic mice (deletion of STAT3 in NK cells); M', transgenic mice (Deletion of...
bronchiectasis,and accompanied by different types of autoimmune diseases.Gene detection confirmed that STAT1 gene mutation existed in all cases with different mutation sites,and those three mutations are gain-of-function mutations.The parents，genes were normal,and STAT1GOF was a new missense mutation....
Progress of primary immunodeficiency caused by STAT1 mutation[J]. Chin Pract Pediatr J, 2019,34(7):599-601. DOI: 10.19538/j.ek2019070618. [3] Zhang W, Chen X, Gao G, et al. Clinical relevance of gain- and loss-...
[5]Takezaki S,Yamada M,Kato M,et al.Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain[J].J Immunol,2012,189: 1521. [6]Boudn V,Kocák I,Lauerová L,et al.Interferon inducibility of STAT 1 activation and its prognostic significance in...
中国实用儿科杂志 2019年 7月 第34卷 第7期信号传导及转录激活因子(signal transducersand activators of transcription,STAT)1 基因突变引起的原发性免疫缺陷病分为4型,分别为常染色体显性(autosomal dominant,AD)遗传的 STAT1 功能获得性(gain-of-function,GOF)免疫缺陷和功能缺失性(loss-of -function,LOF)免疫...