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...

Descripción completa

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
_version_ 1784879917492600832
author Liu, Jing
Lin, Yuese
Li, Xuandi
Ba, Hongjun
He, Xiufang
Peng, Huimin
Li, Shujuan
Zhu, Ling
author_facet Liu, Jing
Lin, Yuese
Li, Xuandi
Ba, Hongjun
He, Xiufang
Peng, Huimin
Li, Shujuan
Zhu, Ling
author_sort Liu, Jing
collection PubMed
description 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.
format Online
Article
Text
id pubmed-9885370
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-98853702023-01-31 Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature Liu, Jing Lin, Yuese Li, Xuandi Ba, Hongjun He, Xiufang Peng, Huimin Li, Shujuan Zhu, Ling Front Pediatr Pediatrics 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. Frontiers Media S.A. 2023-01-11 /pmc/articles/PMC9885370/ /pubmed/36727002 http://dx.doi.org/10.3389/fped.2022.990008 Text en © 2023 Liu, Lin, Li, Ba, He, Peng, Li and Zhu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Liu, Jing
Lin, Yuese
Li, Xuandi
Ba, Hongjun
He, Xiufang
Peng, Huimin
Li, Shujuan
Zhu, Ling
Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature
title Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature
title_full Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature
title_fullStr Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature
title_full_unstemmed Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature
title_short Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature
title_sort haploinsufficiency of a20 in a chinese child caused by loss-of-function mutations in tnfaip3: a case report and review of the literature
topic Pediatrics
url 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
work_keys_str_mv AT liujing haploinsufficiencyofa20inachinesechildcausedbylossoffunctionmutationsintnfaip3acasereportandreviewoftheliterature
AT linyuese haploinsufficiencyofa20inachinesechildcausedbylossoffunctionmutationsintnfaip3acasereportandreviewoftheliterature
AT lixuandi haploinsufficiencyofa20inachinesechildcausedbylossoffunctionmutationsintnfaip3acasereportandreviewoftheliterature
AT bahongjun haploinsufficiencyofa20inachinesechildcausedbylossoffunctionmutationsintnfaip3acasereportandreviewoftheliterature
AT hexiufang haploinsufficiencyofa20inachinesechildcausedbylossoffunctionmutationsintnfaip3acasereportandreviewoftheliterature
AT penghuimin haploinsufficiencyofa20inachinesechildcausedbylossoffunctionmutationsintnfaip3acasereportandreviewoftheliterature
AT lishujuan haploinsufficiencyofa20inachinesechildcausedbylossoffunctionmutationsintnfaip3acasereportandreviewoftheliterature
AT zhuling haploinsufficiencyofa20inachinesechildcausedbylossoffunctionmutationsintnfaip3acasereportandreviewoftheliterature

Ejemplares similares