Primary immunodeficiencies, hyper-IgE syndrome, papillomaviruses. Still a NK cell aficionados.

Paris, France
🧬 New in @CellGenomics 🧵 1/ With @CasanovaLab, we propose a rethinking of monogenic disorders of immunity: 👉 common variants can matter — a lot.
2
4
12
1,163
I meant @casanova_lab ! Wrong tag :-).
1
2
677
6/ This argues for stronger dialogue in clinical immunology (and other medical fields) between patient-based and population-based genetics —biology and medicine sit at their intersection.
1
1
87
Vivien Béziat retweeted
1/ A year ago, a 71-year-old Louisiana man died from H5N1, marking the first avian flu death in the US. Now we report in @JExpMed that the cause of his death is rogue autoantibodies neutralizing type I IFN (AutoAb-IFN). doi.org/10.1084/jem.20251962
5
33
79
11,103
In a new research letter, Materna, @BeziatV et al. identified six individuals with homozygous truncating variants in the pre-TCRα intracellular tail, revealing hypomorphic and neutral alleles. hubs.la/Q03V1P890 @casanova_lab @ESIDsociety
6
15
757
Materna, @BeziatV et al. @institutimagine 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 hubs.la/Q03qMb0m0
9
34
1,470
🚨 Our first paper in @jhumimmunity just came out! We describe two forms of TCR⍺ deficiency: a complete and a partial form. 👉 doi.org/10.70962/jhi.2025001…
1
4
12
701
Please consider submitting your work to @jhumimmunity, the novel journal of the “Inborn Error of Immunity” community. It is published by the nonprofit @RockUPress
1
1
3
178
Thank you to all the fantastic collaborators involved in this story. @casanova_lab, @BustamanteJaci1 @ParvanehNima @ManaMomenilandi, and all not on X, in particular Marie Materna, Simin Seyedpour, Tom Le Voyer, Niloufar Yazdanpanah, Mohammad Shahrooei and Nima Rezaie
3
107