Latest pre-print from the lab, in which we show that ribosome localization is a regulated process, that in turn regulates the metabolism and identity of stem cells in the intestine. Led by the always awesome Joana Silva. Check it out: doi.org/10.1101/2024.0…

Excited to announce I’m speaking at #ESID 2024 ! Join the #ESID community dedicated to improving the lives of patients with #immunodeficiencies and #inbornerrors . Submit your #PID research by 7 May. #immunity #genetics #ingid #ipopi invt.io/1txb5fhj5zj

It has been an immense privilege and honor to review with John MacMicking and Carl Nathan in Science Magazine the past 40 years of IFN-gamma research, and reflect on its neglected and potential role as a medicine

science.org/doi/epdf/10.11…

1/ New paper alert! We describe the first children with inherited PD-L1 deficiency, with neonatal-onset type 1 diabetes. We compared these children clinically and immunologically with previously described PD-1-deficient siblings.
rupress.org/jem/article/22…

Happy to share our latest story in Nature Cell Biology 🥳

In collaboration with the Steve Jackson Lab, we identify a transcription-coupled DPC repair pathway that depends on CSA/CSB but is independent of classical NER 🧬👩‍🔧

nature.com/articles/s4155…

Excited to present my work tomorrow in Hannover! Thanks a lot for inviting me :-)

Elegant demonstration of the role of IL-27 cytokine in protection against acute primary EBV infection.

Combination of genetics, functional T cell work and neutralising anti-IL-27 auto-antibodies.

Very nice. nature.com/articles/s4158…

Is it though? I see that the GWAS crowd is impressed by these p values, but the odds ratio, which is hidden in the supplements, is 1.2! Instead of 20 in 1000 people having lyme disease, we'd be talking about 24 in 1000. What's an IEI and whats an allele conferring moderate risk?

Reinitiation is different in yeast! And apparently doesnt require efficient ribosome recycling? biorxiv.org/content/10.110…
Congrats to the authors for this nice study.

Nice review on non-canonical eIFs (eIF2A, eIF2D, DENR and MCTS1) from Michael Kearse and colleagues! Very interesting! wires.onlinelibrary.wiley.com/doi/epdf/10.10…

1/ Just in! We report the first humans with inherited pre-TCR⍺ deficiency in @sciencemagazine. Dive into our fascinating findings on complete and partial forms of pre-TCRα deficiencies, including a common variant in the Middle East and South Asia. science.org/doi/10.1126/sc…

Inherited human pre-TCR-alpha deficiency: another phenomenal achievement of Vivien Béziat and his team, particularly Marie Materna, in our lab ! Read the thread below and look up our lab's website: hgid.org

Excited to share my work at this cool conference! Save the date!!

1/ 🌐 We're ecstatic to introduce our new website, hgid.org, the digital home for our French-American research lab of human genetics of infectious diseases. Explore our website to learn more about our team and groundbreaking projects and discoveries.

Another superb paper by Yanick Crow & his team:
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease pubmed.ncbi.nlm.nih.gov/38324161/

VEXAS Syndrome: an update
Vincent Jachiet

1/ We are excited to report the discovery and mechanistic exploration of human AR complete CCR2 deficiency in Cell. Surprisingly, CCR2 deficiency underlies two narrow phenotypes: progressive polycystic lung disease and mycobacterial disease (sciencedirect.com/science/articl…).

An amazing project from my brilliant friend and colleague Anna-Lena Neehus on the role of CCR2 in lung homeostasis! Glad to have contributed a little bit to this.

I am thrilled to share our manuscript published in Nature Reviews Molecular Cell Biology.

In this Review (Brito Querido et al., 2023), we discuss the current state of knowledge on eukaryotic translation initiation and its regulation in health and disease.

If you want an adventure, then come work with us!!!!