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

舒岚; 蒋利萍; 战玉助; 赵晓东; 刘玮; 栾佐; 崔玉霞; 张璐颖; 王墨; 吴道奇; 杨锡强

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

更新时间：2026-01-09

- Clinical and genetic diagnoses of 4 cases with hyper-IgE syndrome
- Journal of Army Medical University Vol. 33, Issue 14, Pages: 1506-1510(2011)
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  CLC： R593.31;R446.9
- Published：2011
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舒岚,蒋利萍,战玉助,赵晓东,刘玮,栾佐,崔玉霞,张璐颖,王墨,吴道奇,杨锡强.4例高IgE综合征的临床分析和基因诊断[J].陆军军医大学学报(原第三军医大学学报),2011,33(14):1506-1510.

　Shu Lan,Jiang Liping,Zhan Yuzhu,Zhao Xiaodong,Liu Wei,Luan Zuo,Cui Yuxia,Zhang Luying,Wang Mo,Wu Daoqi,Yang Xiqiang.Clinical and genetic diagnoses of 4 cases with hyper-IgE syndrome[J].J Amry Med Univ (J Third Mil Med Univ),2011,33(14):1506-1510.
舒岚,蒋利萍,战玉助,赵晓东,刘玮,栾佐,崔玉霞,张璐颖,王墨,吴道奇,杨锡强.4例高IgE综合征的临床分析和基因诊断[J].陆军军医大学学报(原第三军医大学学报),2011,33(14):1506-1510. DOI：

　Shu Lan,Jiang Liping,Zhan Yuzhu,Zhao Xiaodong,Liu Wei,Luan Zuo,Cui Yuxia,Zhang Luying,Wang Mo,Wu Daoqi,Yang Xiqiang.Clinical and genetic diagnoses of 4 cases with hyper-IgE syndrome[J].J Amry Med Univ (J Third Mil Med Univ),2011,33(14):1506-1510. DOI：

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。

Abstract

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

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.

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