Article
Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene.
Frontiers in immunology - 1 Jan 2022
Wang Wenjie, Min Qing, Lai Nannan, Csomos Krisztian, Wang Ying, Liu Luyao, Meng Xin, Sun Jinqiao, Hou Jia, Ying Wenjing, Zhou Qinhua, Sun Bijun, Hui Xiaoying, Ujhazi Boglarka, Gordon Sumai, Buchbinder David, Schuetz Catharina, Butte Manish, Walter Jolan E, Wang Xiaochuan, Wang Ji-Yang
Abstract excerpt
Background: Activated phosphoinositide 3 kinase (PI3K) -delta syndrome (APDS) is an inborn error of immunity with variable clinical phenotype of immunodeficiency and immune dysregulation and caused by gain-of-function mutations in PIK3CD. The hallmark of immune phenotype is increased proportions of transitional B cells and plasmablasts (PB), progressive B cell loss, and elevated levels of serum IgM. Objective: To...
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