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New work by CIRCA members Elissa Deenick and Deenick Lab , Stuart Tangye and TangyeLab Garvan Institute of Medical Research Unravelling complexities of human disease due to germline variants in PIK3D and PIK3R1 causing #APDS. AllaboutAPDS

2/ Check out our lineup of excellent speakers here or the complete program on our website! 🎙️💬🔗 hks.memberclicks.net/assets/HKS%20M…

Outstanding study by Isabelle Meyts Casanova Lab Sophie Hambleton and many others reporting complete STAT2 deficiency in 23 pts. Journal of Clinical Investigation Check it out! JCI - Human inherited complete STAT2 deficiency underlies inflammatory viral diseases jci.org/articles/view/…

A career highlight for me - invited to write a review on my fave topic: genetic defects that disrupt human B cell development and function. Just published in Journal of Experimental Medicine doi.org/10.1084/jem.20…

Moriya, Nakano, Satoshi Okada @Hiroshima_Uni et al. establish a novel form of IEI due to DN RELA mutations as a cause of chronic mucocutaneous ulcerations with autoinflammatory and/or autoimmune manifestations. bit.ly/3OUwzzq Casanova Lab #Immunodeficiency

New review: Stuart Tangye et al. discuss how the importance of human B cells in host defense against infectious diseases has been established by the discovery of inborn errors of immunity that disrupt B cell development, differentiation or function bit.ly/3WPyRBQ

We are proud to see our work on DOCK11 LOF variants underlying a novel immune dysregulation disorder published in the NEJM. Check out how we uncovered novel roles for DOCK11 in T-cell shape, migration, cytokine production, and erythroid development. A thread 1/9

Thanks to Maani Truu ABC News for chatting about some of the work we’re doing into immunity against COVID19 and ongoing SARS-CoV2 infections. Full story here. amp.abc.net.au/article/102565…

According to NIH, #PrimaryImmunodeficiency may affect 1-2% of the population, and 70-90% of these cases remain #undiagnosed 👀 Retweet this post to help us shine a light on PI. #Awareness leads to #diagnosis, which leads to a better quality of life for people living with PI 💖

For those of you interested in systemic autoinflammation/autoimmunity and snow related activities this conference may be of interest: keysym.us/KSAutoimmune24 #KSAutoimmune24

This paper in nature is phenomenal. Mutations in NFKB2 cause immune disreg. But phenotypes can be variable. This study shows mutations in C term domain disrupt AIRE expn causing prod’n of autoAbs to type1 IFN. This explains viral susceptibility in these pts. Incl COVID.

Amazing work by Tom Le Voyer Anne Puel JLC Casanova Lab and many others. Thrilled that I Cindy Ma Garvan Institute of Medical Research could play a small part. And that NFKB2 pts from The Clinical Immunogenomics Research Consortium in Australia 🇦🇺 contributed to this global 🌎 study!!

A new era for global immunology research: the Snow Centre for Immune Health, being established at WEHI thanks to a $100m commitment from Snow Medical. In partnership with The Royal Melbourne Hospital the Centre will transform how we research and treat immune disease. More 👇 wehi.edu.au/news/snow-cent…

This MRFF grant will allow us incr genetic diagnoses & improve outcomes for pts with rare immune diseases, & catalyze many terrific research opportunities. This is a collab with collegues across Aust Garvan Institute of Medical Research WEHI (Walter and Eliza Hall Institute) John Curtin School of Medical Research, ANU James Cook Uni Sydney Children's Hospitals Network UWA The Royal Children's Hospital, Melbourne

Garvan Institute of Medical Research WEHI (Walter and Eliza Hall Institute) John Curtin School of Medical Research, ANU James Cook Uni Sydney Children's Hospitals Network UWA The Royal Children's Hospital, Melbourne looking forward to harmonizing immunogenomics across Australia with Dr Vanessa Bryant seth masters Matt Field Cindy Ma Elissa Deenick Belinda Phipson Anselm Enders, Paul Gray, Sarah Kummerfeld, Lloyd D'Orsogna, Theresa Cole, Chris Goodnow, Charlotte Slade, Ilia Voskoboinik

And this builds on ground breaking work done and collaborations established by The Clinical Immunogenomics Research Consortium over the last 8 yrs.

Our world leading #Inflammation programs enter a new era with the appointment of Prof seth masters to lead the Centre for Innate Immunity & Infectious Diseases (CiiiD Hudson)! 👏🏽

DN mutations in OTULIN cause autoinflamm disease. Beautiful paper from Science Sophie seth masters & colleagues incl Paul Gray The Clinical Immunogenomics Research Consortium. well done to all involved. rupress.org/jem/article-ab…

Funding for med research in Aust 🇦🇺 is very tough. So it’s a HUGE relief to know I can continue doing the science we do for the next 5 yrs, supported by this NHMRC investigator grant. Congrats to my Garvan Institute of Medical Research colleagues and many others who were also successful