Studying human immunogenetics to unveil new biological paradigms explaining susceptibility to infection and/or inflammation. #children#immune defects #genetic
๐ We're delighted to share the Abstracts from the Serbian Group for Primary Immunodeficiencies (SGPI) 2nd symposium, which took place April 24-25 in Belgrade and Novi Sad, Serbia. Explore the latest advancements in #PID clinical practice and research! ๐ https://t.co/hCywiG6g1h
Conor Gruber, @BogunovicLab@KidsAtColumbia et al. identify #STAT2 mutations in a family with severe early-onset pulmonary alveolar proteinosis (PAP), a rare lung disease marked by alveolar surfactant accumulation. https://t.co/SZMgiAAJ9a
An exquisite article in The Atlantic by @rkhamsi on how fatal genetic diagnosis need not be. Thank you for featuring @BogunovicLab. ๐๐ผ https://t.co/rXTWREZEEW
Latest from us. :) Led by amazing Pat OโConnell. We, more often than not, see variants of unknown significance (VUSs), and by definition donโt know if they are causative of disease. The only way to exclude them as causative is to test them experimentally. https://t.co/Ht64HZnx3k
Latest from us. Led by amazing Azzeddine Tahiat. Novel forms of CD55 deficiency. Importantly, C5 inhibition restores B cell homeostasis #CHAPLE disease @KidsAtColumbia@ColumbiaPS@Columbia https://t.co/kCLsKKHSZX
Latest from us. @MelissaGansMD et al. lead the way in detailing how best to care for immune dysregulation in individuals with Down syndrome. @jhumimmunity https://t.co/iyXy2crgaT
Latest from us. Led by @he_randolph. What goes rogue in #MISC? 1) Although clinically silent, inflammation persists for months! 2) This is in part due to expansion of T cells that recognize SARS-CoV2 antigens but also cross-react to self antigens. ๐๐ผ https://t.co/UFHN1UK803
1/ Spotlight on our former trainee Dusan Bogunovic (@BogunovicLab), a postdoctoral fellow in our NY lab from 2010-13 and now Professor of Pediatrics, Vice Chair for Basic Research, and Director of the Center for Genetic Errors of Immunity at @Columbia.
In this Perspective, Casanova @casanova_lab discusses the 30-year history and future implications of emerging science showing that monogenetic lesions, and #autoimmune disorders targeting the same components of host defense, can underlie the same infection https://t.co/dT4p8hLslD
Latest thoughts. Today in @JExpMed. We are disomic individuals genetically. Transcriptionally we need not be. Here I discuss what we know about this and propose Theory of Personal Evolution. @KidsAtColumbia@ColumbiaMed https://t.co/zTLo7lZ6gB
1/ The 33rd Annual Henry Kunkel Society Meeting will be held April 16โ18, 2026, at @RockefellerUniv in New York. The theme is โAutoantibodies Against Cytokines.โ
Sazeides et al. @BogunovicLab show that human ISG15 deficiency is a monogenic syndrome that poises individuals to a proapoptotic and profibrotic state that can lead to lung and skin damage with scarring and impaired function via chronic inflammation. https://t.co/by0OxP0erN
Latest from us. @columbiaMed@KidsAtColumbia Dr Akalu et al. report on novel variants leading to TBK1 deficiency , resulting in autoinflammation but also in some cases viral diseases. https://t.co/ykQhAEBr9e
Weโre very close, and when we reach 2000 signatures, petition will be sent to @GovKathyHochul ahead of her Executive Budget announcement and revision period throughout January! So share with friends & family! https://t.co/6d73vmzQIn