Identification of a novel mutation in CYBB gene in a Chinese neonate with X-linked chronic granulomatous disease: A case report

RATIONALE: X-linked chronic granulomatous disease (X-CGD) is an X-linked recessive disorder of the Nicotinamide adenine dinucleotide phosphate oxidase system that can cause primary immunodeficiency. Mutations in the CYBB gene located in Xp21.1 were accounting for X-CGD disease. More than 600 mutatio...

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Detalles Bibliográficos
Autores principales: Zhang, Jie, Fan, Meili, Chen, Mengmeng, Wang, Huihui, Miao, Na, Yu, Haihua, Zhang, Lehai, Deng, Qianqian, Yi, Changying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913083/
https://www.ncbi.nlm.nih.gov/pubmed/35451380
http://dx.doi.org/10.1097/MD.0000000000028875

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913083/
https://www.ncbi.nlm.nih.gov/pubmed/35451380
http://dx.doi.org/10.1097/MD.0000000000028875

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