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| Defects of intrinsic and innate immunity v1.24 | CASP1 | Zornitza Stark Phenotypes for gene: CASP1 were changed from Absent IL18 and lymphopenia but no clinical disease to Inborn error of immunity, MONDO:0003778, CASP1-related; Absent IL18 and lymphopenia but no clinical disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v1.22 | CASP1 | Chirag Patel Marked gene: CASP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v1.22 | CASP1 | Chirag Patel Gene: casp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Defects of intrinsic and innate immunity v1.22 | CASP1 |
Chirag Patel changed review comment from: 8 individuals from 2 consaguineous families (from Pakistani consanguineous biobank). Individuals had the same homozygous CASP1 variant (Tyr153Ter), suggesting founder variant. The adult individuals had markedly reduced IL‑18/IL‑1β secretion and low neutrophil counts but NO overt infection susceptibility. Functional assays in HEK293 cells, patient serum and PBMCs demonstrate complete loss of CASP1 activity. Caspase-1 (CASP1) is a key effector of the canonical inflammasome and innate immunity. Sources: Literature; to: 8 adult individuals from 2 unrelated consaguineous families identified from Pakistani consanguineous biobank. Individuals had the same homozygous CASP1 variant (Tyr153Ter). The individuals had markedly reduced IL‑18/IL‑1β secretion and low neutrophil counts but NO overt infection susceptibility. Functional assays in HEK293 cells, patient serum and PBMCs demonstrate complete loss of CASP1 activity. Multiple heterozygote carriers in the families had reduced CASP1 protein and milder lymphopenia, but no clinical disease. Caspase-1 (CASP1) is a key effector of the canonical inflammasome and innate immunity. Sources: Literature |
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| Defects of intrinsic and innate immunity v1.22 | CASP1 |
Chirag Patel gene: CASP1 was added gene: CASP1 was added to Defects of intrinsic and innate immunity. Sources: Literature Mode of inheritance for gene: CASP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP1 were set to 41101739 Phenotypes for gene: CASP1 were set to Absent IL18 and lymphopenia but no clinical disease Review for gene: CASP1 was set to RED Added comment: 8 individuals from 2 consaguineous families (from Pakistani consanguineous biobank). Individuals had the same homozygous CASP1 variant (Tyr153Ter), suggesting founder variant. The adult individuals had markedly reduced IL‑18/IL‑1β secretion and low neutrophil counts but NO overt infection susceptibility. Functional assays in HEK293 cells, patient serum and PBMCs demonstrate complete loss of CASP1 activity. Caspase-1 (CASP1) is a key effector of the canonical inflammasome and innate immunity. Sources: Literature |
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