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Article

NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature.

Medicine - 1 Oct 2016

Shi Chuan, Wang Fen, Tong Anli, Zhang Xiao-Qian, Song Hong-Mei, Liu Zheng-Yin, Lyu Wei, Liu Yue-Hua, Xia Wei-Bo

Abstract excerpt

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-old Chinese female with adrenocorticotropic hormone (ACTH) deficiency was admitted due to adrenal crisis and...

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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: 27749582
DOI: 10.1097/MD.0000000000005081
PMCID: PMC5059085

Genes

NFKB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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