儿童常染色体显性高IgE综合征临床和遗传特征及鉴别诊断  

Clinical and genetic characteristics and differential diagnosis in children with autosomal dominant hyper-IgE syndrome

作　　者：赵志鹏[1] 贺建新[1] 王昊[1] 殷菊[1] 徐保平[1] 刘秀云[1] 申昆玲[1] Zhao Zhipeng;He Jianxin;Wang Hao;Yin Ju;Xu Baoping;Liu Xiuyun;Shen Kunling(China National Clinical Research Center of Respiratory Diseases,Department of Respiratory,Beijing Children′s Hospital Affiliated to Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]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科,国家儿童医学中心,100045

出　　处：《中华实用儿科临床杂志》2021年第12期953-956,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的总结常染色体显性高IgE综合征患儿的临床特征及其与过敏性疾病的鉴别诊断。方法回顾性分析2016年4月至2020年6月于首都医科大学附属北京儿童医院确诊的7例常染色体显性高IgE综合征患儿的临床资料,总结其一般信息、临床特征及基因改变。诊断标准参考美国国立卫生研究院(NIH)的高IgE综合征评分方法并结合基因检测结果,具体如下:(1)NIH评分>40分,存在信号转导及转录激活蛋白3基因(STAT3)致病突变;(2)NIH评分20~40分,存在明确已报道STAT3致病突变;(3)NIH评分<20分,排除。结果男3例,女4例。7例患儿发病年龄均在出生2个月内,平均诊断年龄3岁。7例患儿均有反复皮肤或肺感染。其中4例同时有皮肤和肺部感染,1例仅有皮肤卡介苗接种处脓肿,2例无皮肤感染患儿均有反复肺炎。5例患儿出现皮肤脓肿的平均年龄为1岁6个月,其中3例脓液培养为金黄色葡萄球菌。6例存在肺部感染患儿中,4例患儿形成了肺大疱。4例有中耳炎,4例有鹅口疮。1例同时有皮肤感染和肺部感染者,出现肝脓肿和脓毒症。7例患儿均有湿疹,6例于新生儿期出现湿疹,且4例湿疹是首次就诊症状。2例患儿同时有食物过敏症状。1例于1岁内有反复喘息。7例患儿血清IgE水平及血嗜酸性粒细胞计数均升高。患儿均存在信号转导及STAT3杂合致病突变,6例为新生突变,共有6个不同突变位点。4个突变位点为已报道位点,其中c.1145G>A、c.1144C>T、c.1699A>G,均为错义突变;c.1139+5G>A为剪切突变。2例突变未见报道,其中c.1031A>C为错义突变;c.2050G>T为无义突变,致病评级均为可能致病,且NIH评分>40分,符合高IgE综合征的诊断。结论湿疹是高IgE综合征常见和早发的临床表现,同时存在血IgE水平和嗜酸细胞计数增高需要与特异性皮炎相鉴别。但其常先后出现反复皮肤脓肿或肺炎,易形成肺大疱。婴幼儿临床表现不典型,基因检测有助Objective To summarize the clinical features of children with autosomal dominant hyper-IgE syndrome(AD-HIES)and the differential diagnosis of hyper-IgE syndrome and allergic diseases as well.Methods All clinical data,including general information,clinical features,and genetic changes,from 7 children with AD-HIES who were diagnosed in Beijing Children′s Hospital Affiliated to Capital Medical University from April 2016 to June 2020 were analyzed retrospectively.The diagnostic criteria are based on the National Institutes of Health′s(NIH)′s hyper-IgE syndrome score and combined with the results of gene detection,shown as follows:(1)NIH score over 40,with signal transducer and activator of transcription 3 gene(STAT3)pathogenic mutation;(2)NIH score between 20 and 40,with reported STAT3 pathogenic mutation;(3)NIH score less than 20 points was excluded.Results There were 3 males and 4 females.The onset age of 7 cases was within 2 months after birth,and the mean age at diagnosis was 3 years old.All seven cases had recurrent skin or lung infections,with 4 cases having skin and lung infections,1 case of skin abscesses at the BCG vaccination site,and 2 cases without skin infection suffering from recurrent pneumonia.The mean onset age of skin abscess in 5 cases was 1.5 years,and pus culture of 3 cases were Staphylococcus aureus.Four cases developed bullae and 6 cases had lung infections.Four cases had otitis media,and oral thrush was seen in 4 cases.One case of skin and lung infection developed liver abscess and sepsis.Seven cases had eczema,which was disco-vered in the neonatal period for 6 cases.Four cases had the symptoms of eczema for the first visit.Two cases had food allergy,and 1 case had recurrent wheezing within 1 year old.The serum IgE level and blood eosinophil count in 7 children were elevated.All children had heterozygous pathogenic mutations in STAT3.Six patients had de novo mutations.There were 6 different mutation sites.The 4 mutation sites were reported:c.1145G>A,c.1144C>T,and c.1699A>G were missense

关 键 词：高IGE综合征 原发性免疫缺陷病 湿疹 信号转导及转录激活蛋白3基因 

分 类 号：R725.9[医药卫生—儿科]