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Aline Kolmer

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Open access Sep 2026

ER proteostasis failure in HYOU1 deficiency alters B cells, neutrophils, and interferon signalling

Multi-omics characterization of 2 patients with biallelic HYOU1 variants reveals that HYOU1 deficiency impairs the unfolded protein response, disrupts early B cell development, and alters neutrophil granulation as well as IFN signalling, further establishing ER proteostasis as a contributor to human immune homeostasis.

Aida Idani, S. Bibi-Triki, Tristan Stemmelen et al. · 0 citations

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