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Primary immunodeficiency or monogenic inflammatory bowel disease v9.70 IKBKE Achchuthan Shanmugasundram Classified gene: IKBKE as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.70 IKBKE Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases identified with monoallelic IKBKE variants and functional evidence is also available for these variants. However, different phenotypes were reported in these two patients (HSV-2 meningitis vs autoinflammatory disease). Hence, this gene can only be rated amber with the current evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.70 IKBKE Achchuthan Shanmugasundram Gene: ikbke has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.69 IKBKE Achchuthan Shanmugasundram Phenotypes for gene: IKBKE were changed from Herpes Simplex Virus type 2 (HSV-2) meningitis; Mollaret meningitis to Herpes Simplex Virus type 2 (HSV-2) meningitis; autoinflammatory syndrome, MONDO:0019751
Primary immunodeficiency or monogenic inflammatory bowel disease v9.68 IKBKE Achchuthan Shanmugasundram Publications for gene: IKBKE were set to 37937644
Primary immunodeficiency or monogenic inflammatory bowel disease v9.67 IKBKE Achchuthan Shanmugasundram Mode of inheritance for gene: IKBKE was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v9.66 IKBKE Achchuthan Shanmugasundram edited their review of gene: IKBKE: Changed phenotypes to: Herpes Simplex Virus type 2 (HSV-2) meningitis, autoinflammatory syndrome, MONDO:0019751
Primary immunodeficiency or monogenic inflammatory bowel disease v9.66 IKBKE Achchuthan Shanmugasundram reviewed gene: IKBKE: Rating: AMBER; Mode of pathogenicity: None; Publications: 37937644, 39524436; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 IKBKE Boaz Palterer gene: IKBKE was added
gene: IKBKE was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: IKBKE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IKBKE were set to 37937644
Phenotypes for gene: IKBKE were set to Herpes Simplex Virus type 2 (HSV-2) meningitis; Mollaret meningitis
Penetrance for gene: IKBKE were set to unknown
Review for gene: IKBKE was set to RED
Added comment: IKBKE encodes IKKε (Inhibitor of nuclear factor kappa-B kinase subunit epsilon), a noncanonical IκB kinase that plays a nonredundant role in mediating the innate immune response to viral infections.

Reyahi et al. identified a monoallelic truncating variant in IKBKE (c.312delC) as the cause of highly disabling, recurrent Herpes Simplex Virus type 2 (HSV-2) meningitis. Functional analyses demonstrate that this mutated allele encodes a truncated protein lacking kinase activity, which exerts a dominant-negative effect over the wild-type protein. This results in a functional deficiency within the cGAS/STING pathway, impaired STING phosphorylation, and a failure of patient cells (including stem cell-derived microglia) to mount an adequate IFN-β antiviral response against HSV-2 and double-stranded DNA.
Sources: Literature