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

钟舒文，蒋丽蓉，邓朝晖，等

doi:10.3969/j.issn.1000-3606.2019.04.016

Journal of Clinical Pediatrics >

2019 , Vol. 37 >Issue 4: 308

DOI: https://doi.org/10.3969/j.issn.1000-3606.2019.04.016

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

钟舒文，蒋丽蓉，邓朝晖，等

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

Online 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��??Calibri��Calibri Bold��Bold��癤?��??'�� 9�?��`�`��?�?�� $?�?�ъ�?⑻? ��??��污?��?�?��'��?�?�??Calibri��Calibri Bold Italic��Bold Italic��癤?��??'�� A�?��`�`��???��!$?�?�ы�?⑻?��??��污?��?�?��'��?�?�??Calibri��Calibri Italic��Italic��癤?��??'�� ?�?��`�`��???��$?�?�Ы�?⑻?��??

Key words： chronic diarrhea;　LIG3 syndrome;　immunodeficiency

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钟舒文，蒋丽蓉，邓朝晖，等 . Chronic diarrhea caused by mutation of LIG4 gene: a case report and literature review[J]. Journal of Clinical Pediatrics, 2019 , 37(4) : 308 . DOI: 10.3969/j.issn.1000-3606.2019.04.016

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