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

Internet

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

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