Excited to share our work on the host genetic landscape of invasive meningococcal disease! Karin van Leeuwen, @SanchoShimizu, Taco Kuijpers @amsterdamumc
https://t.co/cZ47tSDBnO
An incredible 10-year+ effort by the @EUCLIDS_FP7 consortium and collaborators!
The complement and coagulation pathways are implicated in invasive meningococcal disease (MD). How might genetic variation contribute to disease? A study applies gene burden analysis and pathway-based approaches to a cohort of children with MD. Read on. https://t.co/1Rb3fNdEHM
Our new computational technique #burdenMC used to identify enrichment of rare variants in gene regulating the gut lining in patients with MIS-C. @dilyssantillo@SanchoShimizu@JExpMed
https://t.co/T1rlNAlu92
Bellos, Santillo, @SanchoShimizu et al. identify an enrichment of rare, damaging variants in BTNL8 in MIS-C patients resulting in impaired Vγ4⁺ γδ T cell engagement associated with altered gut homeostasis which may contribute to the pathogenesis of MIS-C. https://t.co/y0WZpxIxJL
Bellos, Santillo, @SanchoShimizu et al. identify an enrichment of rare, damaging variants in BTNL8 in MIS-C patients resulting in impaired Vγ4⁺ γδ T cell engagement associated with altered gut homeostasis which may contribute to the pathogenesis of MIS-C. https://t.co/y0WZpxIxJL