A hypomorphic Il2rb mutant mouse model recapitulates and reveals mechanisms of human T cell immune dysregulation in IL-2Rβ deficiency

Summary: Here, we describe the use of a homologous knockin mouse model to further decipher the mechanism(s) of a novel human homozygous IL2RB hypomorphic mutation. Our model recapitulates the human immune dysregulation phenotype, showing decreased mutant interleukin-2Rβ (IL-2Rβ) cell-surface express...

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Main Authors: Berenice Cabrera-Martinez, Josselyn E. Garcia-Perez, Ryan M. Baxter, Victor G. Lui, Tusharkanti Ghosh, Ahmet Eken, Zander Kostka-Newman, John Rhey Mhar Garcia, Jeremy Rahkola, Rachel L. Gessner, Cullen M. Dutmer, Jared Klarquist, Eric M. Pietras, Debashis Ghosh, Sara A. Johnson, Ross M. Kedl, Elena W.Y. Hsieh
Format: Article
Language:English
Published: Elsevier 2025-07-01
Series:Cell Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2211124725006734
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