4例高IgE综合征的临床分析和基因诊断  

Clinical and genetic diagnoses of 4 cases with hyper-IgE syndrome

作　　者：舒岚[1] 蒋利萍[1] 战玉助[1] 赵晓东[1] 刘玮[1] 栾佐[2] 崔玉霞[3] 张璐颖[1] 王墨[1] 吴道奇[1] 杨锡强[1] 

机构地区：[1]重庆医科大学附属儿童医院临床免疫研究室,儿童发育疾病研究省部共建教育部重点实验室,儿科学重庆市重点实验室,重庆市(儿童发育重大疾病诊治与预防)国际科技合作基地,重庆400014 [2]中国人民解放军海军总医院儿科,100037 [3]贵州省人民医院儿科,贵阳550002

出　　处：《第三军医大学学报》2011年第14期1506-1510,共5页Journal of Third Military Medical University

摘　　要：目的探讨高IgE综合征(hyper-IgE syndrome,HIES)的临床特征和基因诊断价值。方法用NIH评分系统对2009年1-7月在重庆医科大学附属儿童医院就诊的4例(男性3例,女性1例)疑似HIES患儿进行评分,总分大于40分为临床诊断标准。用RT-PCR及PCR直接测序法,分析患儿STAT3基因。结果 4例患儿均有反复顽固的湿疹、肺炎、血清IgE异常增高及嗜酸性粒细胞增多。除例4外,其余3例均有反复金黄色葡萄球菌感染。例1～4 NIH评分分别为60、48、72、48分。除例4无STAT3基因突变外,例1～3均有STAT3杂合的错义突变,包括1例新型突变,2例热点突变。结论临床诊断的4例HIES中3例有自发性STAT3基因突变,其中1例为新型突变。对临床怀疑HIES患者应进行NIH评分,超过40分者分析STAT3基因可确诊或排除常染色体显性遗传高IgE综合征。Objective To explore the value of clinical and genetic diagnoses for hyper-IgE syndrome（HIES）.Methods NIH scoring system was performed on 4 children（3 males and 1 female） suspected of HIES,with a total score over 40 points as the clinical diagnostic criteria.The STAT3 gene of the 4 children was analyzed by RT-PCR and PCR-direct sequencing.Results All the 4 children suffered from recurrent eczema and pneumonia,extremely high serum IgE level and eosinophilia increase.Recurrent staphylococcal infections were found in children 1-3.NIH scores of children 1-4 were 60,48,72 and 48 points,respectively.Three heterozygous missense mutations in STAT3 gene were identified in children 1-3,including one novel mutation and two hotspot mutations.However,child 4 showed a wild type STAT3 gene.Conclusion Three STAT3 mutations are identified in the 4 cases with HIES,including a novel mutation.NIH scoring is necessary for the suspected HIES patients.STAT3 gene sequencing analysis can confirm the diagnosis or rule out autosomal dominant HIES when the score is over 40 points.

关 键 词：高IGE综合征 NIH评分系统 STAT3 基因突变 

分 类 号：R593.31[医药卫生—内科学] R446.9[医药卫生—临床医学]