Open access
ER proteostasis failure in HYOU1 deficiency alters B cells, neutrophils, and interferon signalling
Aida Idani
S. Bibi-Triki
Tristan Stemmelen
Mirjana Radosavljevic
P. Grenot
Aurélie Hirschler
Alice Bernard
M. Rosenzwajg
Jian-Ying Yang
Alice Eischen
Lydie Naegely
Cécile Macquin
A. Pichot
Perrine Spinnhirny
Antoine Hanauer
Nasrin Alipour-Olayei
T. Cherrier
Aline Kolmer
N. Paul
R. Olson
E. Morava
Zhi-Chao Miao
C. Carapito
P. Rostami
N. Parvaneh
Mohammad Shahrooei
Anne Molitor
R. Carapito
S. Bahram
Medicine
Abstract
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.