Article
Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling.
Journal of clinical immunology - 1 Nov 2022
Yang Lu, Liu Ping, Du Hongqiang, Chen Ran, Zhou Bo, Li Yanan, Zhou Lina, Wang Xiangli, Liu Cuihua, Ding Yuan, Tang Xuemei, Chen Yongwen, An Yunfei, Zhao Xiaodong
Abstract excerpt
PURPOSE: CD81 deficiency is an extremely rare primary immunodeficiency disease characterized by severe and recurrent infections, IgA-related nephropathy, and profound hypogammaglobulinemia. Only one patient has been reported so far, and the pathogenesis remains unclear. Here, we identified a new case of CD81 deficiency and described its pathogenesis. METHODS: We analyzed the clinical, genetic, and immunological...
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