儿童MSN基因突变致原发性免疫缺陷病1例并文献复习

发布时间：2018-04-13 05:14

  本文选题：MSN基因突变 + 淋巴细胞减少　； 参考：《中国循证儿科杂志》2017年04期

【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.511CT: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。
[Abstract]:Objective to report the clinical features and immunophenotype of MSN gene mutation in children with primary immunodeficiency disease.Methods the clinical data, immunophenotype and treatment of a child with primary immunodeficiency disease caused by MSN gene mutation were reviewed.Results the children were 8 years old with recurrent respiratory tract and digestive tract infection, recurrent skin eczema and frequent tinea pedis.Neutrophils, lymphocytes and monocytes were all decreased, and the counts of immunoglobulin G G G A and Ig M were decreased. The proportion of CD4 ~ / / CD8 ~ was increased. Gene analysis showed that exon 5 of MSN gene had one heterozygote.The missense mutation locus, c. 511CT: p.R171WN, is a spontaneous mutation.The gene mutations or defects of Moesin MSN in children were searched in Pub Medine Web of Science, China knowledge Network, Weip Database and Wanfang Database. The retrieval time was from the establishment of the database to June 30, 2017.The clinical and immunological characteristics of 6 children with MSN gene mutation were summarized in this paper. The clinical manifestations were repeated infection and respiratory tract involvement in the early stage of life.Digestive tract and skin are susceptible to bacteria, fungi and viruses, varicella-herpes zoster virus infection is particularly prominent, easy to involve multiple systems.In immunophenotype, CD8T cells over-expressed the aging cell marker CD57.The immune protein replacement therapy and prophylactic antibiotics could effectively reduce the incidence of infection.Conclusion Immunodeficiency disease caused by MSN gene mutation is characterized by repeated infection within 2 years old, leukopenia and hypogammaglobulinemia.
【作者单位】： 复旦大学附属儿科医院临床免疫科;
【基金】：上海市科学技术委员会西医引导项目:14411965400
【分类号】：R725.9
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本文编号：1743071