摘要
目的报告儿童MSN基因突变致原发性免疫缺陷病的临床特征及免疫表型。方法总结分析1例MSN基因突变致原发性免疫缺陷病患儿的临床资料、免疫表型及治疗,并复习相关文献。结果患儿男,8岁,临床表现为生后反复呼吸道和消化道感染,反复皮肤湿疹,频发足癣。中性粒细胞、淋巴细胞、单核细胞均降低,免疫球蛋白Ig G、Ig A和Ig M低下,T、B和NK淋巴细胞计数降低,CD4^+/CD8^+比例倒置,DNT细胞比例增高,基因检测发现MSN基因外显子5有1个半合子、错义突变位点(c.511C>T:p.R171W),为自发突变。在Pub Med、Web of Science、中国知网、维普数据库和万方数据库中检索儿童Moesin(MSN)基因突变或缺陷,检索时间均从建库至2017年6月30日。共检索到相关文献2篇,均为英文文献,总结包括本文1例在内的6例MSN基因突变患儿的临床和免疫特点;临床均表现为生命早期发生反复感染,累及呼吸道、消化道和皮肤等,对细菌、真菌和病毒均易感,水痘-带状疱疹病毒感染尤为突出,易累及多系统。免疫表型方面,CD8^+T细胞过量表达衰老细胞标志物CD57;给予免疫蛋白替代治疗以及预防性抗生素,可有效减少感染发生。结论 MSN基因突变所致免疫缺陷病表现为2岁以内即发生的反复感染,白细胞降低,低丙种球蛋白血症。
Objective： To explore the clinical feature and immunophenotype of primary immunodeficiency disease caused by MSN gene mutation.Methods： Clinical data, immunophenotype and treatment in 1 case of primary immunodeficiency disease caused by MSN gene mutation were retrospectively analyzed, and related literatures were reviewed. Results： An 8-years-old boy presenting with repeated pulmonary, intestinal infection and recurrent eczema and tinea pedis, was admitted to hospital. Laboratory examination showed that neutrophils, lymphocytes and monocytes were decreased; Immunoglobulin IgG, IgA and IgM were low; T, B and NK lymphocyte counting decreased; the proportion of CD4＋/CD8＋ was reversed and the percentage of DNT cells increased. Whole exome sequencing （WES） was performed and showed a hemi zygote mutation of MSN gene on the X chromosome （c.511C 〉 T, p.R171W） and was confirmed by Sanger sequencing. The test gene of his parents was normal. The retrieval of ＂Moesin（MSN） mutation or deficiency＂ was made in PubMed, web of science, Chinese CNKI, VIP database and wanfang database. From the establishments of these databases to June 30th, 2017, a total of 2 articles were retrieved. Including 1 case of this article, a total of 6 children with MSN mutation were analyzed. All of them showed repeated infection in the early stage of life, involving respiratory tract, digestive tract and skin, and susceptible to bacteria, fungi and viruses. The varicella zoster virus infection was especially prominent and was prone to involve multiple systems. The immunophenotype was similar to that of the case in this article. CD8＋T cells overexpressed the senescent marker CD57. The use of immunoglobulin replacement and prophylactic antibiotics was an effective treatment to reduce the incidence of infection.Conclusion： The immunodeficiency disease caused by MSN gene mutation is characterized by repeated infection in the early stage of life, decrease of leukocytes and immunoglobulin.
出处
《中国循证儿科杂志》
CSCD
北大核心
2017年第4期300-303,共4页
Chinese Journal of Evidence Based Pediatrics
基金
上海市科学技术委员会西医引导项目:14411965400
