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Article

Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy.

Journal of clinical immunology - 30 Sept 2025

Liao Yi-Xin, Xia Lu, Liu Ping, Li Xin-Hua, Liu Li-Pin, Xu Li, Tian Di, Shi Dong-Ling, Guo Xiao-Man, Mei Xue, Okada Satoshi, Liu Ya-Bin, Wang Fei-Fei, Wang Xiao-Chuan, Zhao Chen, Fan Xiao-Hong, Sun Jin-Qiao, Liu Tie-Fu, Ling Yun

Abstract excerpt

BACKGROUND: The CYBB gene encodes the gp91-phox protein, a critical component of the NADPH oxidase complex involved in pathogen clearance. Mutations in CYBB are associated with chronic granulomatous disease (CGD), leading to recurrent bacterial infections. OBJECTIVE: To understand the genetic causes of Chinese CGD patients. METHODS: Exome sequencing was used to identify mutations in CGD patients' PBMCs, confirmed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41026270
DOI: 10.1007/s10875-025-01926-7
PMCID: PMC12484266

Genes

CYBB
NTM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy.PMID 41026270Read ↗

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