🧬 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.

🚨 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...

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/...