An update on signal transduction and activator of transcription 3-hyper-IgE syndrome

VernacularTitle:信号转导和转录激活因子3相关高IgE综合征研究进展
Author: Huifeng FAN ¹ ; Gen LU ; Kunling SHEN
Author Information

1. 广州医科大学附属广州市妇女儿童医疗中心呼吸科，广州　510623
Keywords: Hyper-IgE syndrome; STAT3 gene; Clinical manifestation
From: Chinese Journal of Applied Clinical Pediatrics 2023;38(4):318-320
CountryChina
Language:Chinese
Abstract: Hyper-IgE syndrome (HIES) comprises a group of rare primary immunodeficiencies, which are characterized by extremely high serum IgE levels, eczema, recurrent skin and pulmonary infections.Signal transduction and activator of transcription 3( STAT3)-HIES is the most common type, which is caused by dominant-negative mutations in STAT3.STAT3-HIES confers broad innate and acquired immune defects, defects in skeletal, connective tissue, and vascular functions, causing a clinical phenotype including eczema, staphylococcal and fungal skin and pulmonary infections, scoliosis and minimal trauma fractures, vascular tortuosity and aneurysm.In this article, the advance in diverse clinical manifestations and management strategies of STAT3-HIES was summarized.