A breakthrough: a recessive form of human CTLA4 deficiency !
A homozygous CTLA-4 variant causes CTLA-4 deficiency with severe immune dysregulation https://t.co/jPoXEa8jU5
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
https://t.co/MiiS5jFgg5
Most patients with RELA deficiency carry nonsense or frameshift variants. Mutations before aa290 cause haploinsufficiency, while those after aa290 act dominantly, often with excess type I IFN and more severe disease.
New review from Voyer, @casanova_lab, and @anne_puel synthesizes human inborn errors of the alternative NF-κB pathway, highlighting their shared and distinct effects on lymphoid development, immune dysregulation, and mTEC-mediated tolerance. https://t.co/RihUdJVYWR
Downregulation of the CD21 receptor triggers #extrafollicular differentiation of B cells, driving the formation and proliferation of autoantibody-secreting cells in mouse models of #lupus.
Learn more in Science #Immunology: https://t.co/wa6LpNCeUm
Every single circulating protein can have its function or half-life disrupted by an autoantibody. There will be autoab caused diseases and phenotypes linkable to each of them occurring in some person somewhere. We need a pan-disease autoantibody atlas.
New review from Eken, @hsiehelena et al. unmasks the significant, yet understudied, role of innate lymphoid cells in #InbornErrorsOfImmunity. The authors examine how these “behind the scenes” immune components contribute to monogenetic immune disorders https://t.co/ft573de2UD
Published today. Our review on Incomplete Penetrance. Four governing principles. Details here. 👇🏼@Columbia@KidsAtColumbia@ColumbiaGenDev
https://t.co/wsUI8ZHCTt
Stem-like peripheral helper T cells can give rise to effector helper T cells, which may contribute to tissue inflammation in #RheumatoidArthritis, according to a new study involving patient samples.
Learn more in Science #Immunology: https://t.co/veARMZvuSz
STAT1-GOF is characterized by infections & #autoimmunity. Buddingh, Schuetz et al report overall survival after allogeneic #HSCT in an international cohort of 36 patients is 72.2%. Pre-treatment w/ JAK inhibitors is associated w/ better event-free survival https://t.co/AQVHs0mwPm
Sang-Nee Tan et al. show that regulatory T cells converted from Th1 cells in tumors suppress #cancer immunity via CD39. https://t.co/jY6j28VdGd
📘 In our Clinical #Immunology Collection: https://t.co/ZUCJkyzyEy
#FOCIS2025
This review from Schmitz, Cooper and colleagues explores the identification of somatic variants as a cause of #InbornErrorsOfImmunity https://t.co/hmMQkIQyM3
📘 In our Clinical #Immunology Collection: https://t.co/nWmQp20RPl
#FOCIS2025
Fike, Rahman et al. describe mechanisms of IRF7-driven #autoimmune B cell and autoantibody responses. They reveal that IRF7 promotes #lupus-prone germinal center and plasma cell responses by regulating transcriptome, translation, and metabolism of B cells. https://t.co/LbE0UjUdHB
This review from Schmitz, Cooper and colleagues explores the identification of somatic variants as a cause of #InbornErrorsOfImmunity https://t.co/FGxjqLQMpS
📘 In our Clinical #Immunology Collection: https://t.co/ALD9eoEHTs
#FOCIS2025
Thank you for the spotlight. 🙏🏼
Monoallelic expression in human immune cells: linking genotype to phenotype: Trends in Immunology https://t.co/Gmb5P7tHUe