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PID-ide korral; immunoglobuliini asendusravi (IVIG/SCIG) antikehade puudulikkuse korral; leniolisib (Joenja, FDA 2023) APDS-i korral; geenravi ADA-SCID-i korral; abatatsept CTLA4/LRBA puudulikkuse korral; profülaktilised antibiootikumid; G-CSF CGD korral", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/et/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cerebral-white-matter-morphology", "name": "Abnormal cerebral white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology" }, { "slug": "cerebral-calcification", "name": "Abnormal deposits of calcium in the brain", "systems": [ "abnormality-of-the-musculoskeletal-system", 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birth", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/premature-birth" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "severe-viral-infection", "name": "Severe viral infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/severe-viral-infection" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" } ], "related": [ { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 2, "url": "https://dantelabs.com/et/genes/aicda" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/et/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/et/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/et/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 2, "url": "https://dantelabs.com/et/genes/blnk" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/et/genes/btk" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 2, "url": "https://dantelabs.com/et/genes/c1qa" }, { "slug": "c1qb", "symbol": "C1QB", "name": "complement C1q B chain", "shared": 2, "url": "https://dantelabs.com/et/genes/c1qb" }, { "slug": "c1qc", "symbol": "C1QC", "name": "complement C1q C chain", "shared": 2, "url": "https://dantelabs.com/et/genes/c1qc" }, { "slug": "c1s", "symbol": "C1S", "name": "complement C1s", "shared": 2, "url": "https://dantelabs.com/et/genes/c1s" }, { "slug": "c2", "symbol": "C2", "name": "complement C2", "shared": 2, "url": "https://dantelabs.com/et/genes/c2" }, { "slug": "c3", "symbol": "C3", "name": "complement C3", "shared": 2, "url": "https://dantelabs.com/et/genes/c3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }