Disorders of immune dysregulation
Gene: CASP8
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.Created: 28 Mar 2022, 7:28 a.m. | Last Modified: 28 Mar 2022, 7:28 a.m.
Panel Version: 0.118
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Publications
Borderline red/amber
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.Created: 28 Mar 2022, 5:30 a.m. | Last Modified: 28 Mar 2022, 5:35 a.m.
Panel Version: 0.12152
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
utoimmune lymphoproliferative syndrome, type IIB MIM#607271
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: casp8 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Publications for gene: CASP8 were set to
Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: casp8 has been classified as Amber List (Moderate Evidence).
gene: CASP8 was added gene: CASP8 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CASP8 was set to Unknown