🧬 New in @cellpress.bsky.social 🧵 1/ With @casanovalab.bsky.social , we propose a rethinking of monogenic disorders of immunity: 👉 common variants can matter — a lot.
Vivien Béziat
@vbeziat.bsky.social
INSERM researcher at Imagine Institute Study Inborn Errors of immunity
🚨 Our first paper in @jhumimmunity.org just came out! We describe two forms of TCR⍺ deficiency: a complete and a partial form. 👉 doi.org/10.70962/jhi...
Two different forms of inherited human TCRα chain deficiency | Journal of Human Immunity | Rockefeller University Press
Previous reports suggested that inherited TCRα deficiency is not as severe as expected. We report children with complete TCRα deficiency, a lack of αβ T ce
doi.org
Materna, @vbeziat.bsky.social et al. @institutimagine.bsky.social report children with complete TCRα deficiency, a lack of αβ T cells, & a severe condition. Previously characterized TCRα deficiency, which wasn't as severe as expected, was partial, as opposed to complete rupress.org/jhi/article/...
New in @jhumimmunity.org: Materna, @vbeziat.bsky.social et al. report children with complete TCRα deficiency, a lack of αβ T cells, & a severe condition. Previously characterized TCRα deficiency, which wasn't as severe as expected, was partial, as opposed to complete rupress.org/jhi/article/...
