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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...

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Detalles Bibliográficos
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