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

• Main Authors: Jing Liu (Author), Yuese Lin (Author), Xuandi Li (Author), Hongjun Ba (Author), Xiufang He (Author), Huimin Peng (Author), Shujuan Li (Author), Ling Zhu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 di...