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Primary immunodeficiency or monogenic inflammatory bowel disease v9.75 LY96 Achchuthan Shanmugasundram edited their review of gene: LY96: Changed rating: RED
Primary immunodeficiency or monogenic inflammatory bowel disease v9.75 LY96 Achchuthan Shanmugasundram Classified gene: LY96 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.75 LY96 Achchuthan Shanmugasundram Gene: ly96 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.74 LY96 Achchuthan Shanmugasundram Phenotypes for gene: LY96 were changed from Inflammatory bowel disease; Pneumonia; Otitis media; Abnormal inflammatory response; Recurrent bacterial infections to inflammatory bowel disease, MONDO:0005265; pneumonia, MONDO:0005249; otitis media, MONDO:0005441
Primary immunodeficiency or monogenic inflammatory bowel disease v9.73 LY96 Achchuthan Shanmugasundram edited their review of gene: LY96: Changed phenotypes to: inflammatory bowel disease, MONDO:0005265, pneumonia, MONDO:0005249, otitis media, MONDO:0005441
Primary immunodeficiency or monogenic inflammatory bowel disease v9.73 LY96 Achchuthan Shanmugasundram reviewed gene: LY96: Rating: AMBER; Mode of pathogenicity: None; Publications: 36462957; Phenotypes: inflammatory bowel disease, MONDO:0005265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v9.46 LY9 Achchuthan Shanmugasundram Classified gene: LY9 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.46 LY9 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer, there is sufficient evidence available (three unrelated cases and functional evidence) for the association of LY9 gene with this panel. Hence, this gene can be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.46 LY9 Achchuthan Shanmugasundram Gene: ly9 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.45 LY9 Achchuthan Shanmugasundram edited their review of gene: LY9: Changed phenotypes to: inborn error of immunity, MONDO:0003778, Mycobacterium tuberculosis, susceptibility, MONDO:0000070
Primary immunodeficiency or monogenic inflammatory bowel disease v9.45 LY9 Achchuthan Shanmugasundram Phenotypes for gene: LY9 were changed from Tubercolosis to inborn error of immunity, MONDO:0003778; Mycobacterium tuberculosis, susceptibility, MONDO:0000070
Primary immunodeficiency or monogenic inflammatory bowel disease v9.44 LY9 Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: LY9.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.44 LY9 Achchuthan Shanmugasundram reviewed gene: LY9: Rating: GREEN; Mode of pathogenicity: None; Publications: 40446017; Phenotypes: inborn error of immunity, MONDO:0003778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
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