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IKZF1 and UBR4 gene variants drive autoimmunity and Th2 polarization in IgG4-related disease

13 Jun 2024

Abstract excerpt

IgG4-related disease (IgG4-RD) is a systemic immune-mediated fibroinflammatory disease whose pathomechanisms remain poorly understood. Here, we identified gene variants in familial IgG4-RD and determined their functional consequences. All 3 affected members of the family shared variants of the transcription factor IKAROS, encoded by IKZF1, and the E3 ubiquitin ligase UBR4. The IKAROS variant increased binding to...

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PMID: 38885295
DOI: 10.1172/jci178692

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