Activity
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2 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.15 | LY9 |
Boaz Palterer gene: LY9 was added gene: LY9 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: LY9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LY9 were set to 40446017 Phenotypes for gene: LY9 were set to Tubercolosis Penetrance for gene: LY9 were set to unknown Review for gene: LY9 was set to GREEN Added comment: Ogishi et al. described 3 subjects from 3 kindreds with homozygous LOF mutations in LY9 presenting with tuberculosis in a large TB cohort, notably no homozygous LOF was found in a large control cohort. Extensive ex-vivo and in vivo functional validation. Sources: Literature |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | LY96 |
Boaz Palterer gene: LY96 was added gene: LY96 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Expert list,Literature Mode of inheritance for gene: LY96 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LY96 were set to 36462957 Phenotypes for gene: LY96 were set to Inflammatory bowel disease; Pneumonia; Otitis media; Abnormal inflammatory response; Recurrent bacterial infections Penetrance for gene: LY96 were set to unknown Review for gene: LY96 was set to RED Added comment: Li et al. described 2 patients from 1 kindred, harboring a homozygous mutation in the LY96 gene (c.347_349delCAA). They presented with very early-onset inflammatory bowel disease, recurrent pneumonia, and otitis media. The underlying mechanism and phenotype were validated in vitro using genetically engineered induced pluripotent stem cell (iPSC)-derived macrophages. Both LY96 knockout models and the specific patient mutation knock-in models successfully recreated the immunodeficiency phenotype, demonstrating impaired activation of NF-κB and MAPK signaling, defective TLR4 endocytosis, and significantly decreased cytokine expression (e.g., IL-6, TNF, IL-10) upon challenge with lipopolysaccharide (LPS) and Gram-negative bacteria, while host defense responses to Gram-positive bacteria remained intact. Sources: Expert list, Literature |
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