Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation Journal of Clinical Investigation Casanova Lab Bustamante Jacinta Jonathan Bohlen jci.org/articles/view/…

Excellent thread by Jonathan Bohlen about germline + somatic deficiency of CBL in leukocytes resulting in autoinflammation via dysregulation of monocytes !

Congrats to my friend Jonathan Bohlen for another amazing story published! 🎉 Very happy to have had the chance to work with you on this project! Check out the complete thread on human CBL deficiency 👇

Germline + somatic CBL mutations in leukocytes result in autoinflammation. Great work led by Jonathan Bohlen !

A beautiful investigation into how germline heterozygous CBL variants lead to autoinflammation when accompanied by somatic loss of heterozygosity

Wow, what an amazing experience this year's ESID meeting was! A community driven by scientific curiosity and the motivation to help patients. It was a huge pleasure to present my work in front of this audience!

Why do some patients with a CBL genotype develop autoinflammatory disease?jci.org/articles/view/… Jonathan Bohlen Casanova Lab and team report on chronic monocyte activation through the ERK pathway as a major contributor in patients with CBL LOF variants.

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated #monocyte activation, reports Jonathan Bohlen and colleagues. 💬 More in Journal of Clinical Investigation: bit.ly/3NEfh84

Landmark paper from my colleague and friend Masato Casanova Lab ! A must read!!

We reported recessive DBR1 deficiency underlying brainstem viral encephalitis in humans in 2018 (sciencedirect.com/science/articl…) then 2024 (rupress.org/jem/article/22…). The molecular mechanism remained mysterious. Here it comes. Congrats to Daxing and team for the great findings!!!

1/ I am excited to share our new paper from Casanova Lab published today in Journal of Experimental Medicine about humans with autosomal dominant IFNAR1 deficiency (doi.org/10.1084/jem.20…).

1/ We are delighted to share our work published in @SciImmunolgyidentifying the role of LY9 in CD4+ T cell IFN-γ immunity to Mycobacterium tuberculosis (science.org/doi/10.1126/sc…)