儿童高IgM综合征诊疗进展  

Advances in the diagnosis and treatment of hyper-IgM syndrome in children

作　　者：宋旭乾(综述) 高立伟(审校)[2] Song Xuqian;Gao Liwei(Department of Pediatrics,PLA Strategic Support Force Characteristic Medical Center,Beijing 100101,China;Department of Respiratory DiseasesⅠ,Beijing Children′s Hospital,Capital Medical University,China National Clinical Research Center of Respiratory Diseases,National Center for Children′s Health Research Unit of Critical Infection in Children,Chinese Academy of Medical Sciences 2019RU016,Beijing 100045,China)

机构地区：[1]战略支援部队特色医学中心儿科,北京100101 [2]国家儿童医学中心,国家呼吸系统疾病临床医学研究中心,首都医科大学附属北京儿童医院呼吸一科,中国医学科学院儿童危重感染诊治创新单元2019RU016,100045

出　　处：《国际儿科学杂志》2023年第7期478-481,共4页International Journal of Pediatrics

基　　金：国家自然科学基金(82002129)。

摘　　要：高IgM综合征(hyper-IgM syndrome,HIGM)是由基因突变导致免疫球蛋白类别转换重组(class switch recombination,CSR)缺陷,伴或不伴体细胞高频突变(somatic hyper mutation,SHM)缺陷的一种罕见的原发性免疫缺陷病,多数为X连锁隐性遗传,少数为常染色体隐性或显性遗传,其特点是血清IgM水平升高或正常,并伴有IgG、IgA和IgE缺乏。HIGM临床常表现为儿童早期起病的反复感染、肿瘤和自身免疫疾病等,预后差,尤其是X连锁隐性遗传的HIGM,生后如不及时干预,多数早期夭折。该文旨在介绍HIGM的发病机制、临床表现及诊疗进展等,以提高儿科临床医生对该病的认识,及时做到早期识别与干预,改善HIGM患儿预后。The hyper immunoglobulin M syndrome(hyper-IgM syndrome,HIGM)is a rare X-linked inherited primary immunodeficiency disease(PID)characterized by defective class switch recombination(CSR)with or without somatic hyper mutation(SHM),resulting in normal or increased levels of serum IgM associated with deficiency of immunoglobulin G(IgG),immunoglobulin A(IgA),and immunoglobulin E(IgE)and antibody dysfunction.Most cases have X-linked recessive inheritance,and a few are autosomal-recessive forms.The clinical manifestations include recurrent infections in early age,tumors and autoimmune diseases.The prognosis is poor,especially for HIGM with X-linked recessive inheritance.And if these patients do not be treated timely after birth,most of them will die early.In order to improve pediatricians′understanding of the disease,and to timely identify and treat HIGM for an improved prognosis,this paper reviews the pathogenesis,clinical manifestations,diagnosis and treatment of HIGM.

关 键 词：儿童 原发性免疫缺陷病 高IGM综合征 

分 类 号：R725.9[医药卫生—儿科]