Activity
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5 actions
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| Autoimmune Lymphoproliferative Syndrome v0.12 | ITK | Ain Roesley Marked gene: ITK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.12 | ITK | Ain Roesley Gene: itk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.12 | ITK | Ain Roesley Classified gene: ITK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.12 | ITK | Ain Roesley Gene: itk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.11 | ITK |
Ain Roesley gene: ITK was added gene: ITK was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITK were set to 19425169; 22289921; 25061172; 26056787; 9311799; 10213685 Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1 MIM#613011 Review for gene: ITK was set to GREEN gene: ITK was marked as current diagnostic Added comment: 7 individuals from 5 unrelated families reported homozygous (missense/ nonsense) ITK variants consistent with Lymphoproliferative syndrome phenotype. Two ITK-deficient mouse models demonstrated reduced T cells (CD4+), causing decreased CD4 to CD8 ratio. Patients displayed early onset of features typically including fever, lymphadenopathy, autoimmune disorders, low immunoglobulins and high EBV viral load. Sources: Literature |
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