| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Autoimmune Lymphoproliferative Syndrome v0.4 | CASP8 | Ain Roesley Marked gene: CASP8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.4 | CASP8 | Ain Roesley Gene: casp8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.4 | CASP8 | Ain Roesley Classified gene: CASP8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.4 | CASP8 | Ain Roesley Gene: casp8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoimmune Lymphoproliferative Syndrome v0.3 | CASP8 |
Ain Roesley gene: CASP8 was added gene: CASP8 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: CASP8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP8 were set to 12353035; 25814141; 12654726; 17213198; 16148088 Phenotypes for gene: CASP8 were set to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Review for gene: CASP8 was set to AMBER gene: CASP8 was marked as current diagnostic Added comment: Amber due to functional studies 1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035) Mice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells. Sources: Literature |
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