自身免疫病;托珠单抗;治疗 STAT3基因位于人17号染色体,突变可表现为功能缺失性突变(loss-of-function,LOF)和功能获得性突变(gain-of-function,GOF)[1]。LOF引发遗传性高IgE综合征(hyper IgE syndrome,HIES),而GOF引发婴儿期发病的多系统自身免疫病(infantile-onset multisystem autoimmune disease ,ADMIO)。该病可...
The Treatment and Transplant Experience in STAT3 GOF DiseaseForbes, Lisa R
Background In recent years, germline gain-of-function (GOF) mutations in signal transducer and activator of transcription 3 ( STAT3 ) have been identified as a cause of early-onset multiorgan autoimmune diseases with the widespread use of next-generation sequencing, and targeted therapies such as...
STAT3在肝脏 的急性期反应的产 生、发展以及急性期蛋白的激活表达 中发挥至 Dav n sh1 L Crippin , 关重要的作用. HayJE Hynan JS ReischI,LeeWM,Resultsofa篡pBrolesipAecLtivsSheaamsultdu1deylGof,’:囊 , . ’:: : acuteliverfailureat17tertiarycarecentersinthe ‘’。… ’一’ 6结论 sTAT3能够...
STAT3 gain-of-function (GOF) disease presents with lymphoproliferation, autoimmunity, and failure to thrive. While JAK inhibitors have alleviated symptoms, their effects on disease pathogenesis remain unclear. We prospectively investigated the clinical, immunological, and transcriptomic responses of four ...
Infections in overtly immunocompromised persons (e.g. those living with advanced HIV, receiving malignancy-targeting chemotherapy, or recipients of transplants), may present with severe disease. In the absence of overt immunosuppression, unexplained severe disease due to prevalent microbes may reflect an...
interstitial lung diseaseSTAT3Gain‐of‐function variants in STAT3 are known to cause severe, multifaceted autoimmunity. Here we report three individuals with de‐novo STAT3 GOF alleles and early‐onset, severe interstitial lung disease manifesting during the first 3 years of life. Imaging and ...
Additionally, STAT3 GOF CD8 +T cells demonstrate decreased IL-2 production and proliferation. We identify increased expression of the ecto-enzyme, CD39, which has been reported on exhausted cells and hydrolyzes extracellular ATP, on CD8 +T cells from STAT3 GOF patients and in a mouse model of...
lympho-proliferative diseaseshort statureSignal transducer and activator of transcription 3 (STAT3) gain﹐f‐function (GOF) syndrome is an early﹐nset monogenic inborn error of immunity characterized by multi﹐rgan autoimmune disorders, growth failure and lymphoproliferation. We describe that STAT3 GOF ...
We review the clinical features and pathogenesis of STAT1 and STAT3 GOF and how this has shaped new approaches to therapy.Recent findings: STAT1 GOF, initially described in patients with chronic mucocutaneous candidiasis (CMC) and autoimmune thyroid disease, is now recognized to cause early-onset ...