【TNFAIP3基因新变异致A20单倍性不足1例】。

Zhonghua er ke za zhi = Chinese journal of pediatrics Pub Date : 2023-08-02 DOI:10.3760/cma.j.cn112140-20230202-00072

F M Xue, C Liu, Z Lei, C An

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[A case of haploinsufficiency of A20 caused by new variation of TNFAIP3 gene].

患儿　女，5岁，因“间断发热、腹痛、腹泻2个月余”就诊于郑州大学附属儿童医院，结肠镜检查发现全结肠出现多处不规则深溃疡，肛周可见脓肿。基因检测显示患儿存在TNFAIP3基因杂合变异（NM_001270508：c.866delA），而其父母均为野生型。患儿确诊A20单倍体不足，予营养支持、沙利度胺口服治疗，后因严重胃肠道反应停用沙利度胺，给予生物制剂抗肿瘤坏死因子-α制剂（英夫利昔单抗）治疗半年余，病情得到有效控制。.

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Zhonghua er ke za zhi = Chinese journal of pediatrics

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