Cargando…
NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature
BACKGROUND: Common variable immunodeficiency (CVID) with central adrenal insufficiency is a recently defined clinical syndrome caused by mutations in the nuclear factor kappa-B subunit 2 (NFKB2) gene. We present the first case of NFKB2 mutation in Asian population. METHODS AND RESULTS: An 18-year-ol...
Autores principales: | Shi, Chuan, Wang, Fen, Tong, Anli, Zhang, Xiao-Qian, Song, Hong-Mei, Liu, Zheng-Yin, Lyu, Wei, Liu, Yue-Hua, Xia, Wei-Bo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059085/ https://www.ncbi.nlm.nih.gov/pubmed/27749582 http://dx.doi.org/10.1097/MD.0000000000005081 |
Ejemplares similares
-
NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature: Erratum
Publicado: (2017) -
Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China
por: Hu, Hua, et al.
Publicado: (2021) -
Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review
por: Zhang, Zhaorui, et al.
Publicado: (2022) -
Severe Facial Herpes Vegetans and Viremia in NFKB2-Deficient Common Variable Immunodeficiency
por: Parsons, Karyn, et al.
Publicado: (2019) -
Thyroid hormone resistance and the value of genetics: Three case reports
por: Xiao, Xiao, et al.
Publicado: (2019)