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Article

Novel hypermorphic variants in IRF2BP2 identified in patients with common variable immunodeficiency and autoimmunity.

Clinical immunology (Orlando, Fla.) - 1 Sept 2024

Anim Manfred, Sogkas Georgios, Camacho-Ordonez Nadezhda, Schmidt Gunnar, Elsayed Abdulwahab, Proietti Michele, Witte Torsten, Grimbacher Bodo, Atschekzei Faranaz

Abstract excerpt

The interferon regulatory factor 2 binding protein 2 (IRF2BP2) is a transcriptional regulator, functioning a transcriptional corepressor by interacting with the interferon regulatory factor-2. The ubiquitous expression of IRF2BP2 by diverse cell types and tissues suggests its potential involvement in different cell signalling pathways. Variants inIRF2BP2have been recently identified to cause familial common...

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PMID: 39059757
DOI: 10.1016/j.clim.2024.110326

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