{
  "url": "https://dantelabs.com/traits/severe-combined-immunodeficiency",
  "trait": {
    "bundleId": "2026.10.16-c6eea6bf",
    "release": "2026-09-01",
    "slug": "severe-combined-immunodeficiency",
    "id": "HP:0004430",
    "name": "Severe combined immunodeficiency",
    "definition": "A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.",
    "synonyms": [
      "Immunodeficiency, severe combined"
    ],
    "systems": [
      {
        "slug": "abnormality-of-the-immune-system",
        "name": "Abnormality of the immune system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-immune-system"
      }
    ],
    "broader": [
      {
        "slug": "combined-immunodeficiency",
        "name": "Combined immunodeficiency",
        "url": "https://dantelabs.com/traits/combined-immunodeficiency"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "hgnc": "HGNC:186",
        "name": "adenosine deaminase",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ada"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "hgnc": "HGNC:13222",
        "name": "BCL11 transcription factor B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcl11b"
      },
      {
        "slug": "cd3d",
        "symbol": "CD3D",
        "hgnc": "HGNC:1673",
        "name": "CD3 delta subunit of T-cell receptor complex",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cd3d"
      },
      {
        "slug": "mthfd1",
        "symbol": "MTHFD1",
        "hgnc": "HGNC:7432",
        "name": "methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mthfd1"
      },
      {
        "slug": "pold3",
        "symbol": "POLD3",
        "hgnc": "HGNC:20932",
        "name": "DNA polymerase delta 3, accessory subunit",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pold3"
      },
      {
        "slug": "prkdc",
        "symbol": "PRKDC",
        "hgnc": "HGNC:9413",
        "name": "protein kinase, DNA-activated, catalytic subunit",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prkdc"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "hgnc": "HGNC:362",
        "name": "adenylate kinase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ak2"
      },
      {
        "slug": "chd7",
        "symbol": "CHD7",
        "hgnc": "HGNC:20626",
        "name": "chromodomain helicase DNA binding protein 7",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chd7"
      },
      {
        "slug": "dclre1c",
        "symbol": "DCLRE1C",
        "hgnc": "HGNC:17642",
        "name": "DNA cross-link repair 1C",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dclre1c"
      },
      {
        "slug": "il2rg",
        "symbol": "IL2RG",
        "hgnc": "HGNC:6010",
        "name": "interleukin 2 receptor subunit gamma",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/il2rg"
      },
      {
        "slug": "il7r",
        "symbol": "IL7R",
        "hgnc": "HGNC:6024",
        "name": "interleukin 7 receptor",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/il7r"
      },
      {
        "slug": "nudcd3",
        "symbol": "NUDCD3",
        "hgnc": "HGNC:22208",
        "name": "NudC domain containing 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nudcd3"
      },
      {
        "slug": "pi4ka",
        "symbol": "PI4KA",
        "hgnc": "HGNC:8983",
        "name": "phosphatidylinositol 4-kinase alpha",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pi4ka"
      },
      {
        "slug": "psmb10",
        "symbol": "PSMB10",
        "hgnc": "HGNC:9538",
        "name": "proteasome 20S subunit beta 10",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/psmb10"
      },
      {
        "slug": "rag1",
        "symbol": "RAG1",
        "hgnc": "HGNC:9831",
        "name": "recombination activating 1",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/rag1"
      },
      {
        "slug": "rag2",
        "symbol": "RAG2",
        "hgnc": "HGNC:9832",
        "name": "recombination activating 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/rag2"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rmrp"
      },
      {
        "slug": "ttc7a",
        "symbol": "TTC7A",
        "hgnc": "HGNC:19750",
        "name": "tetratricopeptide repeat domain 7A",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ttc7a"
      },
      {
        "slug": "extl3",
        "symbol": "EXTL3",
        "hgnc": "HGNC:3518",
        "name": "exostosin like glycosyltransferase 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/extl3"
      },
      {
        "slug": "lig4",
        "symbol": "LIG4",
        "hgnc": "HGNC:6601",
        "name": "DNA ligase 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lig4"
      },
      {
        "slug": "pnp",
        "symbol": "PNP",
        "hgnc": "HGNC:7892",
        "name": "purine nucleoside phosphorylase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnp"
      },
      {
        "slug": "pgm3",
        "symbol": "PGM3",
        "hgnc": "HGNC:8907",
        "name": "phosphoglucomutase 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pgm3"
      },
      {
        "slug": "jak3",
        "symbol": "JAK3",
        "hgnc": "HGNC:6193",
        "name": "Janus kinase 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jak3"
      }
    ]
  }
}