LIG4 基因突变导致慢性腹泻1 例报告并文献复习

doi:10.3969/j.issn.1000-3606.2019.04.016

临床儿科杂志 ›› 2019, Vol. 37 ›› Issue (4): 308-.doi: 10.3969/j.issn.1000-3606.2019.04.016

LIG4 基因突变导致慢性腹泻1 例报告并文献复习

钟舒文1，蒋丽蓉1，邓朝晖1，郁婷婷2，王剑2

上海交通大学医学院附属上海儿童医学中心1.消化内科，2.分子诊断中心（上海　200127）

出版日期:2019-04-15 发布日期:2019-04-18
通讯作者: 蒋丽蓉　电子信箱： jianglirong@scmc.com.cn

Chronic diarrhea caused by mutation of LIG4 gene: a case report and literature review

　ZHONG Shuwen1, JIANG Lirong1, DENG Chaohui1, YU Tingting2, WANG Jian2

1.Department of Gastroenterology, 2.Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200126, China

Online:2019-04-15 Published:2019-04-18

摘要/Abstract

摘要： 目的　探讨LIG4综合征的发病机制和诊断。方法　回顾分析1例LIG4综合征患儿的临床资料及基因检测结果。结果　患儿，男，19个月，慢性腹泻病伴病毒、细菌和真菌混合感染；小头外貌，发育落后，营养不良；血常规示白细胞计数，尤其中性粒细胞和淋巴细胞数显著减少， T细胞和B细胞减少，考虑为免疫缺陷病。二代测序发现患儿存在 LIG4致病基因的复合杂合变异，即错义突变c.833G>T；p.Arg278Leu以及缺失突变c.1271_1275del, p.Lys424Argfs*20。结论　慢性腹泻合并多重感染应警惕免疫缺陷病，基因检测有助确诊。

关键词: 慢性腹泻；　LIG4综合征；　免疫缺陷

Abstract: Objective　To explore the pathogenesis and diagnosis of LIG4 syndrome. Method　The clinical data and gene test results of LIG4 syndrome in a child were retrospectively analyzed. Results　A 18-month-old boy suffered from chronic diarrhea, accompanied with mix??CalibriCalibri BoldBold癤???' 9?``?? $??ъ?⑻? ??污???'????CalibriCalibri Bold ItalicBold Italic癤???' A?``???!$??ы?⑻???污???'????CalibriCalibri ItalicItalic癤???' ??``???$??Ы?⑻???

Key words: chronic diarrhea;　LIG3 syndrome;　immunodeficiency

钟舒文，蒋丽蓉，邓朝晖，等. LIG4 基因突变导致慢性腹泻1 例报告并文献复习[J]. 临床儿科杂志, 2019, 37(4): 308-.

ZHONG Shuwen, JIANG Lirong, DENG Chaohui, et al. Chronic diarrhea caused by mutation of LIG4 gene: a case report and literature review[J]. Journal of Clinical Pediatrics, 2019, 37(4): 308-.

LIG4 基因突变导致慢性腹泻1 例报告并文献复习

Chronic diarrhea caused by mutation of LIG4 gene: a case report and literature review

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