ICYMI... Our new collection on Genes and Immunity highlights recent advances in the field of human inborn errors of immunity, incl. immune dysregulations w/ genetic bases leading to #autoimmunity, #inflammation, and increased susceptibility to infections π rupress.org/jem/collecti...
#HKS2025
This review from @macattacklab.bsky.social explores the current landscape of somatic genetic errors of immunity and methods for the detection and validation of somatic variants. rupress.org/jem/article/...
π In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C), from Bellos, Santillo, @sanchoshimizu.bsky.social and colleagues: rupress.org/jem/article/...
π In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
David et al. of the Crow lab suggest that UNC93B1 mutations cause monogenic systemic #lupus erythematosus or chilblain lupus due to differentially enhanced TLR7 and TLR8 signaling. rupress.org/jem/article/...
π In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
GuΓ©rin, Tangye et al. describe clinical features and cellular and molecular mechanisms underlying immune deficiency in seven patients with biallelic germline variants in CD4. rupress.org/jem/article/...
πIn Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
Toth, @macattacklab.bsky.social and colleagues show that a human STAT3 gain-of-function variant drives local Th17 dysregulation and skin #inflammation in mice. rupress.org/jem/article/...
π In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
Simchoni, Shum and colleagues show that the common HAQ STING allele prevents clinical penetrance of COPA syndrome. rupress.org/jem/article/...
π In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
@quentinriller.bsky.social, @frl-lab.bsky.social et al. present the first case of biallelic CHUK mutations disrupting IKKΞ± kinase function, broadening the understanding of non-canonical NF-ΞΊB defects rupress.org/jem/article/...
π In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
Fahd Al Qureshah, @casanovalab.bsky.social, Qian Zhang et al. show that a common form of dominant human IFNAR1 deficiency impairs IFN-Ξ± and -Ο but not IFN-Ξ²-dependent immunity. rupress.org/jem/article/...
πIn Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
Bauman, Snow and colleagues show that dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells. rupress.org/jem/article/...
π In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients, from Haerynck, Claes, Tavernier and colleagues: rupress.org/jem/article/...
π In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
Arrived at my second hometown and very exited to join #HKS2025 hosted by @bogunoviclab.bsky.social and @jem.org #immunology #Belgrade #Serbia
Yukiko Takeda, Kazuhiro Iwai and colleagues show that a de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome. rupress.org/jem/article/...
πIn Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
The Boyer group @lauboye.bsky.social show NLRP3 #inflammasome activation in circulating myeloid cells by human RAC2 gain-of-function variants that are linked to rare immune disorders. rupress.org/jem/article/...
π In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
The @alexyema.bsky.social lab and colleagues show that dominant negative variants in ITPR3 impair T cell CaΒ²βΊ dynamics causing combined immunodeficiency. rupress.org/jem/article/...
π In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
Using large-scale mutational analysis, the Barton lab identify UNC93B1 variants that drive TLR-mediated #autoimmunity in mice and humans. rupress.org/jem/article/...
π In Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
Horesh et al. @bogunoviclab.bsky.social show that individuals with JAK1 variants are affected by syndromic features encompassing #autoimmunity, #atopy, #colitis, and #dermatitis. rupress.org/jem/article/...
πIn Genes & Immunity collection: rupress.org/jem/collecti...
#HKS2025
Attending the Henry Kunkel Society's "Genes and Immunity" in Belgrade and interested in submitting your research to JEM? Meet our Deputy Editor @gaiajexpmed.bsky.social, who will be attending!
βοΈ Email Gaia rupress.org/jem/pages/ed...
π See our collection rupress.org/jem/collecti...
#HKS2025
Our new collection on Genes and Immunity highlights recent advances in the field of human inborn errors of immunity, incl. immune dysregulations w/ genetic bases leading to #autoimmunity, #inflammation, and increased susceptibility to infections π rupress.org/jem/collecti...
#HKS2025
Itβs approaching. Join us in person. Henry Kunkel Society Meeting on "Genes & Immunity" and join us in Belgrade from April 10-12, 2025. henrykunkelsociety.org/meetings/
#HKS2025 #Immunology π§¬π¬
1/ Spots are still open for the 2025 Henry Kunkel Society Meeting on Genes & Immunity!
Join us in Belgrade from April 10-12, 2025.
www.henrykunkelsociety.org/meetings/
#HKS2025 #Immunology π§¬π¬
π’ Register for the 2025 Henry Kunkel Society Meeting on "Genes & Immunity" and join us in Belgrade from April 10-12, 2025. henrykunkelsociety.org/meetings/
#HKS2025 #Immunology π§¬π¬
1/ π’ Register for the 2025 Henry Kunkel Society Meeting on "Genes & Immunity" and join us in Belgrade from April 10-12, 2025. www.henrykunkelsociety.org/meetings/
#HKS2025 #Immunology π§¬π¬
