Journal of Clinical Pediatrics ›› 2019, Vol. 37 ›› Issue (4): 308-.doi: 10.3969/j.issn.1000-3606.2019.04.016

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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. 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

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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

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