Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency pubmed.ncbi.nlm.nih.gov/36308662/

1/10. We developed BPHunter as a genome-wide computational approach for the detection of intronic variants that may disrupt a branchpoint (BP), thereby mRNA splicing. Paper here: pnas.org/doi/10.1073/pn…; Software here: hgidsoft.rockefeller.edu/BPHunter, github.com/casanova-lab/B….

Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency pubmed.ncbi.nlm.nih.gov/36227411/

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity pubmed.ncbi.nlm.nih.gov/36198931/

Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis pubmed.ncbi.nlm.nih.gov/36205835/ A surprise !...

What is the cause of RARE cases of myocarditis following COVID-19 mRNA vaccination?

Read our hypothesis & our plan to answer the Q: rdcu.be/cW7IX

Thankful to work with a great team of scientists & physicians from all over the world.

Details in 🧵

Excited to share the latest editorial from covidhge.com on the genetic and immunological basis of COVID-19 mRNA vaccine induced myocarditis. Alexandre Bolze Casanova Lab Petter Brodin Satoshi Okada Shen-Ying Zhang Laurent Abel Don Vinh

pubmed.ncbi.nlm.nih.gov/36207567/

Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis pubmed.ncbi.nlm.nih.gov/36207567/ The latest position paper of covidhge.com !

Join us TODAY at 11 am ET for our monthly precision public health webinar. Our topic is the role of host genomics in #COVID19 and its implications for medicine and public health. Our speakers Jacques Fellay Casanova Lab
cdc.gov/genomics/event…

Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular contr… pubmed.ncbi.nlm.nih.gov/36159783/

#Autoantibodies against type I #interferons in patients with critical #influenza pneumonia. A new study from Qian Zhang, Andrés Pizzorno Lisa Miorin Casanova Lab and colleagues bit.ly/3qKh67U

🎥 See video summary by Qian Zhang & Andrés Pizzorno: youtu.be/o8l-63MDb9g

Impaired immune response drives age-dependent severity of COVID-19 rupress.org/jem/article-ab… Fantastic paper by the Freiburg team !

10/ Laurent Abel, Aurelie Cobat, and others not on twitter for their contributions to this work.