Phenotypic characterization of patients with activated PI3Kδ syndrome 1 presenting with features of systemic lupus erythematosus

Activated phosphoinositide 3-kinase δ syndrome 1 (APDS1) is a primary immunodeficiency disease caused by gain-of-function mutations in PIK3CD. Clinical features of autoimmune disease have been reported in patients with APDS1. In this study, we reported three patients with APDS1 presenting with syste...

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Detalles Bibliográficos
Autores principales: Wang, Yanping, Yang, Qiuyun, Chen, Xuemei, Tang, Wenjing, Zhou, Lina, Chen, Zhi, An, Yunfei, Zhang, Zhiyong, Tang, Xuemei, Zhao, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2020
Materias:
Full Length Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427252/
https://www.ncbi.nlm.nih.gov/pubmed/34522717
http://dx.doi.org/10.1016/j.gendis.2020.04.012

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