本文選題：MSN基因突變 + 淋巴細胞減少　； 參考：《中國循證兒科雜志》2017年04期

【摘要】：目的報告兒童MSN基因突變致原發(fā)性免疫缺陷病的臨床特征及免疫表型。方法總結(jié)分析1例MSN基因突變致原發(fā)性免疫缺陷病患兒的臨床資料、免疫表型及治療,并復(fù)習(xí)相關(guān)文獻。結(jié)果患兒男,8歲,臨床表現(xiàn)為生后反復(fù)呼吸道和消化道感染,反復(fù)皮膚濕疹,頻發(fā)足癬。中性粒細胞、淋巴細胞、單核細胞均降低,免疫球蛋白Ig G、Ig A和Ig M低下,T、B和NK淋巴細胞計數(shù)降低,CD4~+/CD8~+比例倒置,DNT細胞比例增高,基因檢測發(fā)現(xiàn)MSN基因外顯子5有1個半合子、錯義突變位點(c.511CT:p.R171W),為自發(fā)突變。在Pub Med、Web of Science、中國知網(wǎng)、維普數(shù)據(jù)庫和萬方數(shù)據(jù)庫中檢索兒童Moesin(MSN)基因突變或缺陷,檢索時間均從建庫至2017年6月30日。共檢索到相關(guān)文獻2篇,均為英文文獻,總結(jié)包括本文1例在內(nèi)的6例MSN基因突變患兒的臨床和免疫特點;臨床均表現(xiàn)為生命早期發(fā)生反復(fù)感染,累及呼吸道、消化道和皮膚等,對細菌、真菌和病毒均易感,水痘-帶狀皰疹病毒感染尤為突出,易累及多系統(tǒng)。免疫表型方面,CD8~+T細胞過量表達衰老細胞標志物CD57;給予免疫蛋白替代治療以及預(yù)防性抗生素,可有效減少感染發(fā)生。結(jié)論 MSN基因突變所致免疫缺陷病表現(xiàn)為2歲以內(nèi)即發(fā)生的反復(fù)感染,白細胞降低,低丙種球蛋白血癥。
[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.
【作者單位】： 復(fù)旦大學(xué)附屬兒科醫(yī)院臨床免疫科;
【基金】：上海市科學(xué)技術(shù)委員會西醫(yī)引導(dǎo)項目:14411965400
【分類號】：R725.9
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本文編號：1743071