The First Case of an Infant with Familial A20 Haploinsufficiency in Korea

Haploinsufficiency of A20 (HA20) is a newly described autoinflammatory disease caused by loss-of-function mutations in the TNFAIP3 gene. Clinical phenotypes are heterogenous and resemble Behçet's disease, juvenile idiopathic arthritis, inflammatory bowel disease, or periodic fever syndrome, wit...

Descripción completa

Detalles Bibliográficos
Autores principales: Kim, Hye-Young, Song, Ji Yeon, Kim, Woo-Il, Ko, Hyun-Chang, Park, Su Eun, Jang, Ja-Hyun, Kim, Seong Heon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7402923/
https://www.ncbi.nlm.nih.gov/pubmed/32743991
http://dx.doi.org/10.3346/jkms.2020.35.e252

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7402923/
https://www.ncbi.nlm.nih.gov/pubmed/32743991
http://dx.doi.org/10.3346/jkms.2020.35.e252

Ejemplares similares