
Marco Rodari
@rodari_marco
PhD candidate in immunology studying the TGF-β signaling pathway and primary atopic disorders @InstitutImagine | Marathon runner | Now also on 🦋
ID: 1331200862526566403
24-11-2020 11:40:13
108 Tweet
153 Followers
323 Following


ITGAV variants cause a previously unknown human disease characterized by brain and developmental defects in the case of complete loss-of-function and atopy, neurodevelopmental defects, and colitis in cases of incomplete loss-of-function Journal of Experimental Medicine doi.org/10.1084/jem.20…


Journal of Experimental Medicine The Hospital for Sick Children (SickKids) Marco Rodari @marparl1 Very excited the latest paper from out lab demonstrating a novel monogenic #IBD with atopy, retinal and brain defects. Outstanding work by first authors, Sina Ghasempour, @Neil_Warner_22, Rei Guan, and Marco Rodari .


Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and #colitis, say Sina Ghasempour, Neil Warner, Rei Guan, Marco Rodari, Spencer Freeman, @marparl1, Tjakko van Ham, Aleixo Muise University of Toronto The Hospital for Sick Children (SickKids) and colleagues: hubs.la/Q02XKB7W0


New research from Kaan Boztug suggests that mutations in #LTBR underlie an inborn error of immunity and lead to defects in secondary lymphoid organ (#SLO) development in humans. Read more in Science #Immunology: bit.ly/40UiLeo


Ghasempour et al. University of Toronto The Hospital for Sick Children (SickKids) use whole exome sequencing in #IBD patients to reveal variants of ITGAV that are associated with immune dysregulation, brain abnormalities, and #colitis: hubs.la/Q02XKBHC0 Marco Rodari @marparl1 #HumanDiseaseGenetics #Immunodeficiency



What’s next in understanding monogenic atopic disorders? The next ESID Juniors JC and CC session will continue the discussion from November’s Grand Round. Speakers: Marco Rodari, Adreea Ioan, and Grand Round expert Laia Alsina Manrique de Lara. Moderator: Selket Delafontaine. bit.ly/49aYx26


What Happens When Some Cells Are More Dad Than Mom (and Vice Versa)? Latest from us. Published today. News here cuimc.columbia.edu/news/what-happ… article here: nature.com/articles/s4158… O'Jay Stewart BogunovicLab and a huge international team thank you 🙏🏼 Columbia Children's Health Lipschultz Precision Immunology Institute

In Journal of Experimental Medicine, Quentin Riller, Rieux-Laucat et al. show that IKKα kinase deficiency causes syndromic #immunodeficiency & immune dysregulation as a consequence of a major defect in the non-canonical NF-κB pathway and a partial defect in the canonical pathway hubs.la/Q032HMky0


Thrilled to share our latest in Journal of Experimental Medicine ! 🚨 A single patient with syndromic immunodeficiency led us to uncover that biallelic point mutations in the IKKα kinase domain disrupt the non-canonical and partially the canonical NF-kB pathway activation. Dive into the details! 🧬
