常染色体性高IgM综合症l例家族报道附文献复习  

Autosomal Recessive Hyper-IgM Syndrome：A Family Case Report and Literature Review

作　　者：秦爽[1] 曾雯[1] 黄丽芳[1] 郑邈[1] 孟凡凯[1] 孙汉英[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院血液内科,湖北武汉430030

出　　处：《中国血液流变学杂志》2013年第2期247-249,257,共4页Chinese Journal of Hemorheology

摘　　要：目的探讨高IgM综合症（HIGM）临床特征及常见基因的发病机制，提高对该病的认识。方法对收治的1例23岁女性患者的临床资料进行分析，并复习国内外相关文献。结果患者以反复肺部感染为临床特点，为AID基因纯合突变的常染色体高IgM综合症，免疫球蛋白治疗效果良好，其父母均为杂合携带者。结论HIGM为罕见遗传病，可能与多种基因突变相关，导致免疫球蛋白类别转化和体细胞高频突变不能正常进行，出现低IgG、IgA、IgE，IgMJE常或偏高，该疾病死亡率高，提高该病认识尤为重要。Objective To explore the clinical features,pathogenesis of common gene,in order to improve the recognition of the disease.Method We analyzed the clinical data of a 21 years old female patient and the literatures were reviewed.Result The patient is characterized by recurrent lung infection,is autosomal recessive HIGM due to mutations of AID and responses well to treatment with IVIG.The patient＇s parents are carriers. Conclusion HIGM is a rare genetic disease,may be related with a variety of gene mutation leading to the failure in somatic hypermutation and immunoglobulin class switching.The result is decreased serum IgG,IgA and IgE levels but normal or elevated IgM,the disease has a high mortality, and it is important to improve the recognition of the disease.

关 键 词：高IgM综合症 AID CD40L 体细胞高频突变 免疫球蛋白类别转化 

分 类 号：R593.31[医药卫生—内科学]