Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature

被引：5
作者：
Liu, Jing [1 ,2 ]
Lin, Yuese [1 ,2 ]
Li, Xuandi [1 ,2 ]
Ba, Hongjun [1 ,2 ]
He, Xiufang [1 ,2 ]
Peng, Huimin [1 ,2 ]
Li, Shujuan [1 ,2 ]
Zhu, Ling [1 ,2 ]
机构：
[1] Sun Yat sen Univ, Affiliated Hosp 1, Dept Pediat Cardiol, Guangzhou, Peoples R China
[2] Minist Hlth, Key Lab Assisted Circulat, Guangzhou, Peoples R China
来源：
FRONTIERS IN PEDIATRICS | 2023年 / 10卷
基金：
中国国家自然科学基金;
关键词：
A20; haploinsufficiency of A20; autoinflammatory disease; TNFAIP3; children; PROCALCITONIN; MARKER;
D O I：
10.3389/fped.2022.990008
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Case PresentationA 3-year-and-6-month-old child was reported to have recurrent high fever with generalized lymph node enlargement and significant elevation of inflammatory markers such as C-reactive protein and procalcitonin in tests. Later, whole exome sequencing determined that the child's disease was haploinsufficiency of A20 (HA20). ResultsAfter immunosuppressive therapy, the child's symptoms improved significantly, and the inflammatory markers dropped to the normal range. ConclusionBecause of the characteristics of HA20, this disease is often underdiagnosed and misdiagnosed in clinical practice. By reporting this case of HA20 in a child, we hope to increase the awareness of this disease in the clinic.
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页数：7
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