Cargando…
Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder marked by abnormal phagocytic function. CGD affects primarily neutrophils and manifests as an early predisposition to severe life-threatening infections. Additionally, patients with CGD are predisposed to unique autoimmune ma...
Autores principales: | Gavrilova, Tatyana, Zelig, Ari, Lee, Diana H. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026706/ https://www.ncbi.nlm.nih.gov/pubmed/32089701 http://dx.doi.org/10.1155/2020/2546190 |
Ejemplares similares
-
Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB
por: Reis, Bárbara C. S., et al.
Publicado: (2021) -
De novo mutation of CYBB gene in a boy presenting as intra-abdominal infection of Burkholderia contaminans: a case report
por: Zhao, Qianqian, et al.
Publicado: (2022) -
Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients
por: Gul, Irum, et al.
Publicado: (2023) -
A novel mutation in CYBB induced X-linked chronic granulomatous disease: A case report
por: Xu, Xuehua, et al.
Publicado: (2020) -
Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients
por: Cardamone, Giulia, et al.
Publicado: (2018)