PDF(Pubmed)
Abstract：
A boy, aged 4 years and 6 months, had disease onset of fever, cough, pale complexion, and weakness, with hepatosplenomegaly, lymphadenectasis, and pancytopenia. He had been having repeated respiratory and digestive tract infections. Gene detection showed a pathogenic heterozygous mutation, c.C2147 > T(p.T716M), in the STAT3 gene. The boy was thus diagnosed with immune dysregulation syndrome. Anti-infective therapy and irregular corticosteroid therapy had an unsatisfactory effect in the early stage, but the symptoms improved after regular corticosteroid therapy. This article reported the case of immune dysregulation syndrome caused by STAT3 gene mutation and summarized the epidemiology, clinical features, diagnosis, and treatment of this disease, which can provide a reference for early diagnosis, treatment, and future studies of this disease.
摘要：
一个男孩,4岁零6个月，有发烧的疾病发作，咳嗽,肤色苍白,和弱点，肝脾肿大，淋巴结肿大，和全血细胞减少症.他反复呼吸道和消化道感染。基因检测显示致病性杂合突变，C.C2147>T（p。T716M),在STAT3基因中。这个男孩因此被诊断出患有免疫失调综合征。早期抗感染治疗和不规则糖皮质激素治疗效果不理想,但常规皮质类固醇治疗后症状有所改善。本文报道了STAT3基因突变导致免疫失调综合征的病例,临床特征,诊断,和治疗这种疾病，这可以为早期诊断提供参考，治疗,以及对这种疾病的未来研究。
