Variants in human CD48 lead to impaired T-cell immunity and increased inflammation - PubMed
4 hours ago
- #immune dysregulation
- #CD48 variants
- #T-cell immunity
- CD48 variants impair T-cell immunity and increase inflammation.
- Two unrelated patients with immune dysregulation had S220 missense variants.
- Variants cause reduced surface CD48, ER stress, and increased T-cell apoptosis.
- Patient T cells show poor antiviral responses and restricted TCR diversity.
- CD48-deficient mice replicate impaired viral clearance and inflammation.
- Findings highlight CD48's role in preventing excessive inflammation.