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New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬 A big step for precision medicine! nature.com/articles/s4146…
Already 53 phenomenal papers published in the @jhumimmunity ! Look it up and submit your best papers to the only journal focused on human inborn errors of immunity, their phenocopies, and related topics in human immunology: rupress.org/jhi
Thanks to Dr. Takahisa Gono and team for reviewing Myositis Specific Antibody (MSA) accuracy among commercial assays. Beware of false -ve and +ve results for MSA esp LineBlot assay. Analytical performance of commercial myositis-specific autoantibody te... sciencedirect.com/science/articl…
Also @APSID_PID
Now is the time! Submit before the year ends :-) @LASIDimmuno @ClinImmSoc @ESIDsociety
Anti-Ku antibodies in connective tissue diseases - By Marie Robert (fellow in Internal Medicine, Paris, France) #Ku #InternistAcademy 2025
In 2014, West Africa was facing the worst Ebola outbreak in history. The deadly virus had ravaged countries like Guinea, Liberia, and Sierra Leone—but had not yet reached Nigeria. That changed when Patrick Sawyer, a Liberian-American diplomat, arrived at an airport in Lagos,…
Newborn screening programs have facilitated the diagnosis of severe combined immune deficiency and underscored the need for a rapid test to differentiate between hematopoietic and thymic defects. Learn about an artificial thymic organoid assay. bit.ly/4o8dmZw
Cabinet’s approval for Phase-III of the Biomedical Research Career Programme will nurture scientific talent, support fellowships, collaborative grants and build world-class biomedical research capacity across India. pib.gov.in/PressReleasePa…
Poor soul has clearly never had a good one. A truly great idli is a cloud, a whisper, a perfect dream of the perfectibility of human civilisation. It's a sublime creation, a delicate, weightless morsel of rice and lentil, steamed to an ethereal fluffiness that melts on the…
Dosa? No words, just respect. 🙏 It's idli that tastes like steamed regret 😭
Today’s journal review 📚 One colleague presented Dazukibart for inflammatory myositis. That name caught attention—what’s with “-bart”? We’re all used to antibody names ending in -mab. Here’s what changed, and why ⬇️ #Rheumatology #Immunology #Sullysrounds #MedX #Medtwitter…
@LangloisLab and I consider the potential impact of human inborn errors of immunity on the evolution of viruses, including the onset of viral pandemics: The potential impacts of human genetics on virus emergence | PNAS pnas.org/doi/10.1073/pn…
New Perspective article from @TimothyBuckey and Jennifer Heimall @ChildrensPhila describes the #ethical #dilemmas encountered by #clinical #immunologists in the evaluation of an inborn error of immunity. hubs.la/Q03BNtN40 #InbornErrorsOfImmunity
New in @JExpMed: Fu et al. identify biallelic germline ASXL1 variants as the cause of a novel #InbornErrorOfImmunity, linking ASXL1 deficiency to epigenetic dysregulation, combined immune deficiency, chronic viral infections, & malignancy hubs.la/Q03zN5pk0
STAT1-GOF is characterized by infections & #autoimmunity. In @jhumimmunity, Buddingh, Schuetz et al. report overall survival after allogeneic #HSCT in an international cohort of 36 patients is 72.2%, markedly improved from an earlier report. hubs.la/Q03zBrMb0
Staines-Boone, Blancas-Galicia, and colleagues characterize a new genetic predisposition to coccidiodomycosis. Autosomal dominant STAT1 deficiency is a monogenic defect that increases susceptibility to coccidioidomycosis in humans. hubs.la/Q03zlsqz0 #InbornErrorsOfImmunity
1/ We are delighted to share our work published in @SciImmunolgyidentifying the role of LY9 in CD4+ T cell IFN-γ immunity to Mycobacterium tuberculosis (science.org/doi/10.1126/sc…)
Here’s the latest from Hsieh Lab! Can we link tissue-specific spatially resolved immune molecular, cellular, and histopathology profiles to specific immune pathway defects? From biopsy to precision medicine? #theissueisinthetissue doi.org/10.1002/art.43…
A fascinating Review about inborn errors of immunity in Rheumatology !
Tobin and Cooper review #InbornErrorsOfImmunity that can present with rheumatologic and #autoimmune complications and the role of genetic testing for establishing a molecular diagnosis & devising personalized treatment plans to improve patient outcomes. hubs.la/Q03yv0n00
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