Cargando…

Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report

BACKGROUND: The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two unrelated Chinese families. CASE PRESENTATION: A total of four patients from two...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Guo-min, Liu, Hai-mei, Guan, Wan-zhen, Xu, Hong, Wu, Bing-bing, Sun, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6624950/
https://www.ncbi.nlm.nih.gov/pubmed/31299923
http://dx.doi.org/10.1186/s12881-019-0856-1