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

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 haploin...

Full description

Saved in:
Bibliographic Details
Published in:Frontiers in pediatrics 2023-01, Vol.10, p.990008
Main Authors: Liu, Jing, Lin, Yuese, Li, Xuandi, Ba, Hongjun, He, Xiufang, Peng, Huimin, Li, Shujuan, Zhu, Ling
Format: Article
Language:English
Subjects:
A20
autoinflammatory disease
children
haploinsufficiency of A20
Pediatrics
TNFAIP3
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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). After immunosuppressive therapy, the child's symptoms improved significantly, and the inflammatory markers dropped to the normal range. 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.
ISSN:2296-2360
2296-2360
DOI:10.3389/fped.2022.990008