免疫出生缺陷(inborn errors of immunity, IEI)是一类主要由单基因变异导致免疫细胞数量和(或)功能异常的疾病,是儿童支气管扩张症的重要病因之一。支气管扩张症会严重影响IEI患儿的生长发育、生存质量及预后,相较于免疫功能正常的儿童...免疫出生缺陷(inborn errors of immunity, IEI)是一类主要由单基因变异导致免疫细胞数量和(或)功能异常的疾病,是儿童支气管扩张症的重要病因之一。支气管扩张症会严重影响IEI患儿的生长发育、生存质量及预后,相较于免疫功能正常的儿童,IEI儿童在无感染情况下病变也可能进展。早期诊断及采取积极的治疗可以预防或减缓支气管扩张症的进展。有效及改善长期结局的治疗手段对IEI患儿至关重要。本文将简述近年IEI相关支气管扩张症的研究进展。Inborn errors of immunity (IEI) are a group of diseases caused by single-gene mutations that lead to abnormalities in the number and (or) function of immune cells. It’s one of the main causes of bronchiectasis in children, with the condition having a significant impact on growth and development, quality of life and prognosis. In contrast to children with normal immune function, the lesions of children with IEI may also progress in the absence of infection. Early diagnosis and active treatment can prevent or slow the progression of bronchiectasis. Effective treatments with improved long-term outcomes are crucial for children with IEI. This article will briefly describe the progress of research on IEI-related bronchiectasis in recent years.展开更多
文摘免疫出生缺陷(inborn errors of immunity, IEI)是一类主要由单基因变异导致免疫细胞数量和(或)功能异常的疾病,是儿童支气管扩张症的重要病因之一。支气管扩张症会严重影响IEI患儿的生长发育、生存质量及预后,相较于免疫功能正常的儿童,IEI儿童在无感染情况下病变也可能进展。早期诊断及采取积极的治疗可以预防或减缓支气管扩张症的进展。有效及改善长期结局的治疗手段对IEI患儿至关重要。本文将简述近年IEI相关支气管扩张症的研究进展。Inborn errors of immunity (IEI) are a group of diseases caused by single-gene mutations that lead to abnormalities in the number and (or) function of immune cells. It’s one of the main causes of bronchiectasis in children, with the condition having a significant impact on growth and development, quality of life and prognosis. In contrast to children with normal immune function, the lesions of children with IEI may also progress in the absence of infection. Early diagnosis and active treatment can prevent or slow the progression of bronchiectasis. Effective treatments with improved long-term outcomes are crucial for children with IEI. This article will briefly describe the progress of research on IEI-related bronchiectasis in recent years.
