1. Expanding the Spectrum of Immune Abnormalities in VICI Syndrome.
- Author
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Frost, Erin L., Youngblood, Laura Lucas, Hammers, Yuki, Fitch, Taylor, Pencheva, Bojana, and Chandrakasan, Shanmuganathan
- Subjects
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REGULATORY T cells , *T helper cells , *MEDICAL genetics , *GENETICS , *CELL anatomy , *AGENESIS of corpus callosum - Abstract
The letter published in the Journal of Clinical Immunology discusses Vici Syndrome, a rare autosomal recessive disorder caused by mutations in the EPG5 gene. The syndrome is characterized by various symptoms, including immune deficiency, cardiomyopathy, and hypopigmentation. The letter reports on three patients with Vici Syndrome who presented with inflammatory bowel disease and hemophagocytic lymphohistiocytosis, expanding the understanding of immune dysregulation in this population. The study highlights the importance of evaluating patients with Vici Syndrome for immune deficiency and hyperinflammatory states, emphasizing the need for further research on the role of EPG5 in immune regulation. [Extracted from the article]
- Published
- 2024
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