摘要
目的探讨高IgE综合征(HIES)的临床特征。方法采用高通量测序技术对疑诊高IgE综合征患儿进行基因检测,发现基因突变后使用Sanger测序进行验证,收集5例HIES患儿临床资料及实验室检查结果。结果明确了4个STAT3基因突变(c.1268G>A、c.1144C>T、c.1427C>T、c.1843A>G)。5例HIES患儿均在新生儿期患湿疹,平均确诊年龄为7.6岁。5例均有反复湿疹、皮肤冷脓肿以及反复肺炎;2例青春期儿童乳牙脱落延迟,其中1例出现脊柱侧弯。5例IgE水平均显著升高,仅有1例患儿嗜酸性粒细胞水平升高。HIES确诊后,5例患儿给予复方磺胺甲噁唑片预防细菌感染以及伊曲康唑预防真菌感染,感染及湿疹严重时给予静注人免疫球蛋白治疗。结论对于临床怀疑HIES的患儿,应尽早进行基因检测,临床上可采用高通量测序技术对原发性免疫缺陷病患儿进行基因诊断及鉴别诊断,常染色体显性遗传HIES患儿管理的重点是预防及控制感染。
Objective To investigate the clinical features of hyper-IgE syndrome (HIES). Methods The genes of children suspected of HIES were detected by high-throughput sequencing, and Sanger sequencing was used to verify the mutation. The clinical data and laboratory examination results of 5 children with HIES were collected. Results Four STAT3 gene mutations were identified (c.1268G>A, c.1144C>T,c.1427C>T, c.1843A>G). Five children all were fallen eczema in neonatal period, while the mean age who were finally diagnosed HIES was 7.6 years. Five children all were suffered from recurrent eczema, cold skin abscess and repeated pneumonia. In addition, delayed deciduous teeth loss was observed in 2 adolescent children, and scoliosis occurred in one of them. The IgE levels increased significantly in all 5 cases, while only one child had elevated eosinophil level. After the diagnosis of HIES, 5 children were given compound sulfamethoxazole tablets to prevent bacterial infection and itraconazole to prevent fungal infection. Human immunoglobulin was given intravenously when children had serious infection and eczema. Conclusion Gene mutations should be detected as soon as possible for children suspected of HIES, and high-throughput sequencing can be contributed to gene diagnosis and differential diagnosis of children with primary immunodeficiency disease. Management of children with AD-HIES should focus on the prevention and treatment of infection.
作者
张翠
李小青
李丹
耿玲玲
冯媛
南楠
ZHANG Cui;LI Xiao-qing;LI Dan;GENG Ling-ling;FENG Yuan;NAN Nan(Immunology Department,Xi'an Children's Hospital,Xi'an 710003,China)
出处
《临床医学研究与实践》
2019年第21期137-139,共3页
Clinical Research and Practice
