ArticleCureus2025
A Unique Pathogenic Heterozygous Hypoxia Up-Regulated Protein 1 (HYOU1) Mutation Presenting With Recurrent Osteomyelitis, Subglottic Stenosis, and Hypoglycemia.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
5 authors.
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Abstract
The hypoxia up-regulated protein 1 (HYOU1) gene encodes a chaperone protein involved in maintaining cellular homeostasis by reducing oxidative stress and supporting the unfolded protein response in the endoplasmic reticulum and mitochondria. While homozygous HYOU1 mutations have been previously reported in patients with profound immunodeficiency, pancytopenia, and hypoglycemia, the clinical implications of heterozygous mutations remain less defined. We describe a patient with a heterozygous pathogenic HYOU1 mutation who presents with a longstanding history of recurrent infections, medically treated hypoglycemia, and subglottic stenosis due to repeated intubation and inflammation.
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