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Clinical, genetic, and functional characterization of novel NFKB1 variants in Chinese patients with primary immunodeficiency.

Clinical and experimental immunology - 6 Jan 2026

Zhang Jingyuan, Cai Huacong, Zhu Tienan, Shen Min

Abstract excerpt

The nuclear factor κB (NF-κB)-related disorders encompassed not only common variable immunodeficiency but also manifestations of autoinflammation, autoimmunity, and malignancies. While most cases have been reported in European populations, reports in the Chinese population are sparse. Clinical data and genetic variants from four Chinese patients with NFKB1 variants, alongside four previously reported cases, were...

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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: 42252100
DOI: 10.1093/cei/uxag033
PMCID: PMC13289753

Genes

NFKB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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