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...
Saved in:
| 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 |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2211124725006734 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Functional insights of an uncommon hypomorphic variant in IL2RG as a monogenic cause of CVID-like disease with antibody deficiency and T CD4 lymphopenia
by: Andrea González-Torbay, et al.
Published: (2025-03-01) -
Case Report: Hypomorphic Ligase 4 deficiency – a paradigm of immunodysregulation
by: Catarina Andrade, et al.
Published: (2025-02-01) -
Developments in gastrointestinal organoid cultures to recapitulate tissue environments
by: Madeline R. Kuhn, et al.
Published: (2025-04-01) -
A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system
by: Stuti Bakshi, et al.
Published: (2025-07-01) -
Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature
by: Jan Fischer, et al.
Published: (2025-01-01)