Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.
Wei-Te LeiYu-Fang LoMiyuki TsumuraJing-Ya DingChia-Chi LoYou-Ning LinChuang-Wei WangLu-Hang LiuHan-Po ShihJhan-Jie PengTsai-Yi WuYu-Pei ChanChen-Xuan KangShang-Yu WangChen-Yen KuoKun-Hua TuChun-Fu YehYa-Ju HsiehTakaki AsanoWen-Hung ChungSatoshi OkadaCheng-Lung KuPublished in: Journal of clinical immunology (2024)
Our study provides the first comprehensive clinical and molecular characteristics in STAT1 GOF patient in Taiwan and highlights the dysregulated T and B cells subsets which may hinge the autoimmunity in STAT1 GOF patients. It also demonstrated the therapeutic safety and efficacy of baricitinib in pediatric patient. Further research is needed to delineate how the aberrant STAT1 signaling lead to the changes in cellular populations as well as to better link to the clinical manifestations of the disease.