Article
De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease.
Journal of clinical immunology - 1 Jan 2023
Yu Lang, Li Wenhui, Lv Ge, Sun Gan, Yang Lu, Chen Junjie, Zhou Lina, Ding Yuan, Zhang Zhiyong, Tang Xuemei, An Yunfei, Zhao Xiaodong
Abstract excerpt
Chronic granulomatosis disease (CGD) is a rare inborn error of immunity, characterized by phagocytic respiratory outbreak dysfunction. Mutations causing CGD occur in CYBB on the X chromosome and in the autosomal genes CYBA, NCF1, NCF2, NCF4, RAC2, and CYBC1. Nevertheless, some patients are clinically diagnosed with CGD, due to abnormal respiratory outbursts, while the pathogenic gene mutation is unidentified....
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