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

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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Bibliographic Details
Main Authors: Yanping Wang, Qiuyun Yang, Xuemei Chen, Wenjing Tang, Lina Zhou, Zhi Chen, Yunfei An, Zhiyong Zhang, Xuemei Tang, Xiaodong Zhao
Format: Article
Language:English
Published: Elsevier 2021-11-01
Series:Genes and Diseases
Subjects:
Activated phosphoinositide 3-kinase δsyndrome 1
Autoimmune disease
Immunosuppressive therapy
PIK3CD
Systemic lupus erythematosus
Online Access:http://www.sciencedirect.com/science/article/pii/S2352304220300647

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