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国内首例FOXN1单倍体不足报告并文献复习

李文道 谷昊 王薇 吴润晖 宋红梅

李文道, 谷昊, 王薇, 吴润晖, 宋红梅. 国内首例FOXN1单倍体不足报告并文献复习[J]. 协和医学杂志. doi: 10.12290/xhyxzz.2022-0040
引用本文: 李文道, 谷昊, 王薇, 吴润晖, 宋红梅. 国内首例FOXN1单倍体不足报告并文献复习[J]. 协和医学杂志. doi: 10.12290/xhyxzz.2022-0040
LI Wendao, GU Hao, WANG Wei, WU Runhui, SONG Hongmei. First Case Report of FOXN1 Haploinsufficiency in China and Literature Review[J]. Medical Journal of Peking Union Medical College Hospital. doi: 10.12290/xhyxzz.2022-0040
Citation: LI Wendao, GU Hao, WANG Wei, WU Runhui, SONG Hongmei. First Case Report of FOXN1 Haploinsufficiency in China and Literature Review[J]. Medical Journal of Peking Union Medical College Hospital. doi: 10.12290/xhyxzz.2022-0040

国内首例FOXN1单倍体不足报告并文献复习

doi: 10.12290/xhyxzz.2022-0040
基金项目: 

国家重点研发计划(2021YFC2702000);国家科技资源共享服务平台计划(YCZYPT[2020]01)

详细信息
    通讯作者:

    吴润晖,E-mail:runhuiwu@hotmail.com

    宋红梅,E-mail:songhm1021@126.com

  • 中图分类号: R593.3;R725.9

First Case Report of FOXN1 Haploinsufficiency in China and Literature Review

Funds: 

National Key R&D Program of China(2021YFC2702000)

  • 摘要: 目的 报道国内首例FOXN1单倍体不足患儿的临床及免疫学特点,并总结国外既往报道病例特征。 方法 回顾性分析1例FOXN1单倍体不足患儿的临床表现、全外显子组测序结果,并对T细胞抗原受体剪切环(T cell receptor rearrangement excisioncircles,TRECs)和κ-删除重组切除环(κ-deleting recombination excision circles,κ RECs)水平、TB细胞亚群及T细胞受体(T cell receptor,TCR) Vβ多样性进行检测。以“ FOXN1 deficiency”“ FOXN1 haploinsufficiency”“ FOXN1缺陷”“ FOXN1单倍体不足”为检索词,检索PubMed、万方数据知识服务平台和中国知网,并进行文献复习。 结果 患儿,女婴,1岁5个月,以反复自身免疫性溶血性贫血为主要表现,伴毛发稀疏、甲营养不良。基因检测提示FOXN1基因c.1392_1401delTCCTGGACCC(p.P465Rfs*82)新生杂合突变,诊断为FOXN1单倍体不足。TRECs检测提示T细胞生成缺陷,KRECs正常,TCR Vβ显示TCR多样性受限。TB细胞分群提示CD4+ T细胞减少,初试CD4+ T减少,以记忆型CD4+ T细胞为主。共检索到5篇相关文献,均为英文文献。目前,全球共报道41例FOXN1单倍体不足患儿,突变类型以移码突变为主。 结论 FOXN1单倍体不足是联合免疫缺陷病的一种,以婴幼儿期T细胞减少、反复感染为主要表现,可伴毛发发育异常、甲营养不良及自身免疫现象,骨髓移植不能治愈该疾病。
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出版历程
  • 收稿日期:  2022-01-27
  • 录用日期:  2022-02-22
  • 网络出版日期:  2022-08-22

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