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Primary immunodeficiency or monogenic inflammatory bowel disease v9.75 LY96 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is only one family and functional evidence available in support of the disease association. The phenotype is variable across the two siblings from the same family. Hence, this gene can only be rated red with the current evidence.; to: Comment on list classification: There is only one family and functional evidence available in support of the disease association. The phenotype is variable across the two siblings from the same family. Hence, this gene can only be rated red with the current evidence.
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 Added comment: Comment on list classification: There is only one family and functional evidence available in support of the disease association. The phenotype is variable across the two siblings from the same family. Hence, this gene can only be rated red with the current 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 v9.9 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