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ProteomicsMultiomics analyses reveal B cell differentiation arrest and neutrophil hypogranulation in a patient with an immunodeficiency caused by a novel homozygous missense variant in HYOU1
The Hypoxia Upregulated Protein 1 (HYOU1) encodes an endoplasmic reticulum chaperone which is expressed in response to endoplasmic reticulum stress and contributes to cellular protection by restoring cell homeostasis. In this study, we report a patient with a novel homozygous variant in HYOU1 (NM_00...
ORGANISM(S): Homo sapiens (Human) 
2026-08-18 | PXD058947 | Pride
B cell deficiency Multiomics Neutrophil hypogranulation Hyou1 Immunodeficiency 
TranscriptomicsBulk RNA sequencing analysis of a patient with an immunodeficiency caused by a novel homozygous missense variant in HYOU1
In this study, we report a patient with a novel homozygous variant in HYOU1 (NM_001130991.3:c.1331C>A, p.Pro444His), who was born to related parents and presented with combined immunodeficiency, failure to thrive, and hypoglycemia. We undertook a multiomics analysis combining transcriptomics, prote...
ORGANISM(S): Homo sapiens 
2025-08-25 | E-MTAB-15443 | biostudies-arrayexpress
TranscriptomicsSingle-cell RNA sequencing analysis of circulating leucocytes and bone marrow cells from a patient with HYOU1 Pro444His variant and heatlhy controls
In this study, we report a patient with a novel homozygous variant in HYOU1 (NM_001130991.3:c.1331C>A, p.Pro444His), who was born to related parents and presented with combined immunodeficiency, failure to thrive, and hypoglycemia. We undertook a multiomics analysis combining transcriptomics, prote...
ORGANISM(S): Homo sapiens 
2025-01-29 | E-MTAB-14786 | biostudies-arrayexpress
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