Female CYBB Mutation Mosaicism Leading to Inheritance of X-linked Chronic Granulomatous Disease

Female CYBB Mutation Mosaicism Leading to Inheritance of X-linked Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a heterogeneous primary immunodeficiency characterized by severe bacterial and fungal infections and tissue granuloma formation early in life. Diagnosis of CGD involves the granulocyte function assays and gene mutation analysis. X-linked CGD (XL-CGD) caused by...

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Bibliographic Details
Main Authors: ZHANG Yue, SHU Zhou, LI Yan, PIAO Yurong, HAN Tongxin, MAO Huawei
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2022-07-01
Series:罕见病研究
Subjects:
x-linked chronic granulomatous disease
cybb gene
mosaicism
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.03.017

Internet

https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.03.017

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