免疫出生缺陷的特殊识别线索-骨骼异常  

Special clues for Inborn Errors of Immunity:skeleton abnormalities

作　　者：刘芋巧 孙先定 刘星[3] 安云飞[1] Liu Yuqiao;Sun Xianding;Liu Xing;An Yunfei(Department of Rheumatology&Immunology Children’s Hospital of Chongqing Medical University,National Clinical Research Center for Child Health&Disorders,Ministry of Education Key Laboratory of Child Development&Disorders,Chongqing Key Laboratory of Child Rare Disease in Infection and Immunity,Chongqing 400014,China;Department of Orthopedics,Second Affiliated Hospital,Chongqing Medical University,Chongqing 400010,China;Department of Orthopedics Children’s Hospital of Chongqing Medical University,Chongqing Medical University,National Clinical Research Center for Child Health&Disorders,Ministry of Education Key Laboratory of Child Development&Disorders,Chongqing Municipal Key Laboratory of Pediatrics,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院风湿免疫科,国家儿童健康与疾病临床医学研究中心,儿童发育疾病研究教育部重点实验室,儿童感染与免疫罕见病重庆市重点实验室,重庆400014 [2]重庆医科大学附属第二医院骨科,重庆400010 [3]重庆医科大学附属儿童医院骨科,国家儿童健康与疾病临床医学研究中心,儿童发育疾病研究教育部重点实验室,儿科学重庆市重点实验室,重庆400014

出　　处：《中华小儿外科杂志》2024年第6期569-576,共8页Chinese Journal of Pediatric Surgery

基　　金："十四五"国家重点研发计划(2021YFC2700804);国家自然科学基金面上项目(82070135)。

摘　　要：免疫出生缺陷(inborn errors of immunity,IEI)是主要由单基因突变引起的一类以免疫系统异常为主,伴有其他系统异常的遗传性疾病。部分IEI患儿同时患有骨骼结构功能异常,严重影响患儿生活与生存。免疫出生缺陷患儿的骨骼异常一方面是由于免疫和骨骼系统形成及功能可能受到共同基因调控;另一方面由于免疫功能异常可直接影响骨骼发育、生长和稳态维持从而继发骨骼异常。本文旨在以骨发育和(或)骨稳态与免疫系统的相关性为线索,探讨相关IEI的临床特征及可能发病机制,以期临床免疫、风湿、骨科等医务人员更多关注免疫缺陷与骨关节系统交叉表现,以及面对骨骼异常患儿,注意关注患儿的感染、自身免疫、自身炎症等表现。通过简单易行的骨骼体格检查和影像学早预警和发现一部分IEI患儿。Inborn errors of immunity(IEI)are a large series of diseases due to a single gene mutation.Immune system abnormality is frequently accompanied by multi-system manifestations.Abnormal bone structures and functions seriously affect the life and survival of IEI children.Immune and skeletal system formation and function may be regulated by common genes.And immune molecular dysfunctions also result in bone abnormalities due to direct involvements in bone development,growth and homeostasis.This review summarized the clinical characteristics and potential pathogenesis of related IEI based upon the correlation between bone development and bone homeostasis with immune system.A cross-expression of immunodeficiency and skeletal system in clinical immunology,rheumatism,orthopedics and other medical specialties was highlighted.IEI may be detected through simple and convenient bone physical examinations and imaging studies.

关 键 词：骨发育 免疫缺陷 稳态 

分 类 号：R725.9[医药卫生—儿科]