疑难病研究：STAT3基因突变致免疫失调综合征

Immune dysregulation syndrome caused by STAT3 gene mutation: a complicated case study

摘要:

4岁6个月男性患儿，以发热、咳嗽、面色苍白及乏力起病，有肝脾大、淋巴结肿大并全血细胞减少，自幼反复呼吸道及消化道感染，基因检查示STAT3基因存在致病性杂合突变c.C2147 > T （p.T716M），故该患儿诊断为免疫失调综合征。前期抗感染及不规律激素治疗疗效欠佳，予规律激素治疗后症状好转。该文报道了1例STAT3基因突变致免疫失调综合征，对该病流行病学、临床特征、诊疗等进行归纳总结，为该病的早期诊断、治疗及后续研究提供了参考依据。

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.