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

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...

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Detalles Bibliográficos
Autores principales: Liu, Jing, Lin, Yuese, Li, Xuandi, Ba, Hongjun, He, Xiufang, Peng, Huimin, Li, Shujuan, Zhu, Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885370/
https://www.ncbi.nlm.nih.gov/pubmed/36727002
http://dx.doi.org/10.3389/fped.2022.990008
Descripción
Sumario: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.

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