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PNASNews 3/ We describe 2 patients with inherited RelB deficiency, presenting with a wide range of infectious diseases (bacterial, viral, fungal). This T and B cell deficiency is characterized by reduced blood counts of naïve T cells and memory B cells, and low in vitro IgG/IgA production

PNASNews 4/ Other patients with bi-allelic variants of RELB were previously reported (doi.org/10.14785/lpsn-…; doi.org/10.1016/j.jaut…; doi.org/10.3389/fcimb.…; doi.org/10.1016/j.jaut…)

PNASNews 5/ RelB deficiency in our patients’ fibroblasts severely disrupts the alternative NF-κB pathway, while the canonical NF-κB pathway remains largely intact.

PNASNews 6/ Both patients developed AAN-IFN-I, correlating with their viral susceptibility, even after hematopoietic stem cell transplantation (HSCT) in one patient, indicating persistent dysfunction of thymic negative selection.

PNASNews 7/ While HSCT can cure the patients’ combined immunodeficiency, it does not prevent the development or persistence of AAN-IFN-I, leaving patients at risk of severe viral diseases throughout their life, such as West Nile virus encephalitis (doi-org.proxy.insermbiblio.inist.fr/10.1084/jem.20…).

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Doing amazing on this big scene Cindy Ma #ESID2024

Thank you Job Research Foundation for enabling our research TangyeLab and Cindy Ma laboratories, nicely presented tonight by Stuart Tangye #ESID2024 #Immunology

Now available: updated mutation significance cutoff (MSC) based on CADD v1.7, with gene-specific cutoffs minimizing false negatives in variant filtration: itanlab.org/wp-content/upl… Thanks Meltem Ece Kars and David Stein for testing. Casanova Lab Ref: nature.com/articles/nmeth…

.Adrian Gervais et al. Casanova Lab show that auto-Abs neutralizing type I IFNs underlie an increasing list of severe arboviral diseases due to Flaviviridae (WNV, TBEV, POWV, USUV) or Togaviridae (RRV) viruses transmitted to humans by mosquitos or ticks. hubs.la/Q02WCx850

An updated Human Gene Connectome (HGC) based on STRING v12.0 is now available: drive.google.com/drive/folders/… Providing a biological distance metric between any two human genes, enabling effective prioritization of candidate genes based on known genes. Casanova Lab

.Cindy Ma is a Lab Leader at Garvan Institute of Medical Research whose research interests lie in the study of human diseases of the immune system such as primary immunodeficiencies due to inborn errors of immunity. We spoke to Cindy about her career and current work: hubs.la/Q02-zppX0

Excited to share our new paper Cell Genomics Genomics: Bridging Genomics' Greatest Challenge: The Diversity Gap This work highlights the need for inclusive datasets, equitable collaborations & investment in global genomic research led by Manuel Corpas doi.org/10.1016/j.xgen…

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

The 2024 IUIS Inborn Errors of Immunity (IEI) Classification has arrived! Explore our latest insights now at iuis.org/committees/iei. Find the report under “Annual 2024 Report”!

Another great finding by Prof Cindy Ma on further understanding human CD4 T cell biology!! Demonstrating what induces and suppresses IL9 production. Well done !

About to start the genetic analysis for vaccine-associated #myocarditis. Please share our study page helix.com/enroll/myocard… or my contact with any vaccine-associated myocarditis patient who may be interested in helping our research study. Thank you & ty Myocarditis Fndn

Guérin et al. TangyeLab describe clinical features and cellular and molecular mechanisms underlying immune deficiency in seven patients with biallelic germline variants in CD4. hubs.la/Q03ggVpD0 📘In Genes & Immunity collection: hubs.la/Q03gh2yT0 #HKS2025

IEIVariantFilter prioritizes genetic variants based on ranges of zygosity, the quality of reads, the predicted variant effect, and genes related to immunity, considering a consanguineous hypothesis whenever necessary   academic.oup.com/nargab/article…