A novel functional IKBKE variant activating NFAT in a patient with polyarthritis and a remittent fever.

doi:10.3389/fimmu.2024.1475179

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Article

A novel functional IKBKE variant activating NFAT in a patient with polyarthritis and a remittent fever.

Frontiers in immunology - 1 Jan 2024

Yamada Saeko, Nagafuchi Yasuo, Yamada Mamiko, Suzuki Hisato, Natsumoto Bunki, Ota Mineto, Takazawa Ikuo, Hatano Hiroaki, Kono Masanori, Harada Hiroaki, Shoda Hirofumi, Okamura Tomohisa, Kosaki Kenjiro, Fujio Keishi

Abstract excerpt

Background: IKBKE is a negative regulator of T cell activation and one of the key activators of type I interferon (IFN) and NFκB signaling via non-classical pathways. The upstream single nucleotide polymorphism of IKBKE (rs2297550-G) is a genome-wide association study risk variant of systemic lupus erythematosus, and is associated with decreased IKBKE expression in T cells by expression quantitative trait locus...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39524436
DOI: 10.3389/fimmu.2024.1475179
PMCID: PMC11544129

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