TNFAIP3功能丧失性突变导致中国儿童A20单倍剂量不足：一例病例报告及文献复习
Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature.
作者信息
Liu Jing, Lin Yuese, Li Xuandi, Ba Hongjun, He Xiufang, Peng Huimin, Li Shujuan, Zhu Ling
机构信息
Department of Pediatric Cardiology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Key Laboratory on Assisted Circulation, Ministry of Health, Guangzhou, China.
出版信息
Front Pediatr. 2023 Jan 11;10:990008. doi: 10.3389/fped.2022.990008. eCollection 2022.
CASE PRESENTATION
A 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).
RESULTS
After immunosuppressive therapy, the child's symptoms improved significantly, and the inflammatory markers dropped to the normal range.
CONCLUSION
Because 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.
病例报告
据报告，一名3岁6个月大的儿童反复高烧，伴有全身淋巴结肿大，且检测中炎症标志物如C反应蛋白和降钙素原显著升高。后来，全外显子测序确定该儿童的疾病为A20单倍体不足（HA20）。
结果
经过免疫抑制治疗后，患儿症状明显改善，炎症标志物降至正常范围。
结论
由于HA20的特点，该疾病在临床实践中常被漏诊和误诊。通过报告这例儿童HA20病例，我们希望提高临床对该疾病的认识。
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