3/4 Curiosity-driven fundamental research of host-pathogen interactions: a molecular compass to combat infectious diseases. A million thanks for the trust and support – by former mentors, peers, trainees, and the @ERC_Research .
1/4 Above and beyond honored being awarded this European Research Council (ERC) Starting Grant to study the human genetic and immunological determinants of invasive group A streptococcal infections.
📣 The latest ERC Starting Grant competition results are out! 📣
494 bright minds awarded €780 million to fund research ideas at the frontiers of science.
Find out who, where & why 👉 https://t.co/L6PimhW50v
🇪🇺 #EUfunded#FrontierResearch#ERCStG@HorizonEU@EUScienceInnov
7/ OTULIN haploinsufficiency is the first defect of non-hematopoietic cell-intrinsic immunity to a bacterial infection in humans in vivo. Multiple examples have been previously documented for immunity to viruses (https://t.co/rgUy8lh5SR).
6/ Naturally elicited antibodies against alpha-toxin can compensate for OTULIN haploinsufficiency, reminiscent of LTA-specific Abs in patients with TIRAP deficiency (https://t.co/YNHXsBrrLp), and explain in part incomplete clinical penetrance.
5/ Most patients with cri-du-chat syndrome, also known as 5p- syndrome, lack OTULIN, explaining their infections (https://t.co/3CSZ29fBUR). A rare inborn error of immunity helps understanding a more common chromosomal anomaly.
4/ OTULIN haploinsufficiency is related to but different from autosomal recessive OTULIN deficiency (https://t.co/D4hyxuMWm8), which is a purely auto-inflammatory condition (https://t.co/MlTMXpVUlr).
3/ The clinical hallmark of OTULIN haploinsufficiency is necrosis of the skin and/or lungs, typically triggered by infections with #Staphylococcus aureus.
2/ We discovered OTULIN haploinsufficiency via a genome-wide approach in a cohort of patients with unexplained, life-threatening staphylococcal disease – the findings are relevant in vivo.