Publications by authors named "R Cheynier"
Article Synopsis
- * A study examined 131 female patients with X-linked dominant incontinentia pigmenti (IP), finding that 36% produced autoantibodies against IFN-α and/or IFN-ω, significantly higher than age-matched controls.
- * The presence of these autoantibodies is linked to an abnormally small thymus and predisposes patients to life-threatening viral infections, while those without these autoantibodies do not face the same risk.
Article Synopsis
- Some babies with a specific mutation in the IL7R gene have a serious immune problem called SCID, where they lack a certain type of immune cells called T cells, but still have normal B and NK cells.
- In a study of 6 adults who have a similar genetic issue, they showed low levels of T cells but had relatively normal levels of other immune cells, indicating a more specific problem in T cell development.
- Even though their T cells didn’t grow well in the lab, the study hints that there might be another way T cells can develop that doesn’t depend solely on the IL-7 cytokine.
We describe humans with rare biallelic loss-of-function variants impairing pre-α T cell receptor (pre-TCRα) expression. Low circulating naive αβ T cell counts at birth persisted over time, with normal memory αβ and high γδ T cell counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue αβ T cell development.
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