A novel functional IKBKE variant activating NFAT in a patient with polyarthritis and a remittent fever
A novel functional heterozygous variant in <i>IKBKE</i> is described in a patient with a remittent fever and arthritis. The data suggest that <i>IKBKE</i> is an important negative regulator of inflammation, particularly in T cells, and this <i>IKBKE</i> variant might be the underlying cause of a novel autoinflammatory pathology.
Authors
- Hirofumi Shoda (ORCID: https://orcid.org/0000-0002-1536-0303)
- Tomohisa Okamura (ORCID: https://orcid.org/0000-0001-7257-5557)
- Ikuo Takazawa (ORCID: https://orcid.org/0000-0003-1640-5806)
- Yasuo Nagafuchi (ORCID: https://orcid.org/0000-0002-1316-8035)
- Mamiko Yamada (ORCID: https://orcid.org/0000-0002-4039-8899)
- Hiroaki Harada (ORCID: https://orcid.org/0000-0001-5566-9973)
- Hiroaki Hatano (ORCID: https://orcid.org/0000-0003-1511-2964)
- Bunki Natsumoto (ORCID: https://orcid.org/0000-0003-4354-3972)
- Saeko Yamada (ORCID: https://orcid.org/0000-0001-8561-4463)
- Keishi Fujio (ORCID: https://orcid.org/0000-0001-7276-5254)
- Hisato Suzuki (ORCID: https://orcid.org/0000-0002-8122-7180)
- Kenjiro Kosaki (ORCID: https://orcid.org/0000-0002-6798-8151)
- Masanori Kono (ORCID: https://orcid.org/0000-0001-7516-653X)
- Mineto Ota (ORCID: https://orcid.org/0000-0003-4552-8573)
Institutions
- University of Tsukuba (JP)
- Keio University (JP)
- The University of Tokyo (JP)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2024-10-25
- DOI
- https://doi.org/10.3389/fimmu.2024.1475179
- Primary Topic
- Signaling Pathways in Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Chugai Pharmaceutical