{
  "url": "https://dantelabs.com/traits/cellular-immunodeficiency",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "cellular-immunodeficiency",
    "id": "HP:0005374",
    "name": "Cellular immunodeficiency",
    "definition": "An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.",
    "synonyms": [],
    "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": "immunodeficiency",
        "name": "Decreased immune function",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      }
    ],
    "narrower": [
      {
        "slug": "severe-t-cell-immunodeficiency",
        "name": "Severe T-cell immunodeficiency",
        "genes": 9,
        "url": "https://dantelabs.com/traits/severe-t-cell-immunodeficiency"
      }
    ],
    "genes": [
      {
        "slug": "ak2",
        "symbol": "AK2",
        "hgnc": "HGNC:362",
        "name": "adenylate kinase 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ak2"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "hgnc": "HGNC:795",
        "name": "ATM serine/threonine kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atm"
      },
      {
        "slug": "epg5",
        "symbol": "EPG5",
        "hgnc": "HGNC:29331",
        "name": "ectopic P-granules 5 autophagy tethering factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/epg5"
      },
      {
        "slug": "foxn1",
        "symbol": "FOXN1",
        "hgnc": "HGNC:12765",
        "name": "forkhead box N1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxn1"
      },
      {
        "slug": "acd",
        "symbol": "ACD",
        "hgnc": "HGNC:25070",
        "name": "ACD shelterin complex subunit and telomerase recruitment factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acd"
      },
      {
        "slug": "cdca7",
        "symbol": "CDCA7",
        "hgnc": "HGNC:14628",
        "name": "cell division cycle associated 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cdca7"
      },
      {
        "slug": "ctc1",
        "symbol": "CTC1",
        "hgnc": "HGNC:26169",
        "name": "CST telomere replication complex component 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ctc1"
      },
      {
        "slug": "dkc1",
        "symbol": "DKC1",
        "hgnc": "HGNC:2890",
        "name": "dyskerin pseudouridine synthase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dkc1"
      },
      {
        "slug": "dnmt3b",
        "symbol": "DNMT3B",
        "hgnc": "HGNC:2979",
        "name": "DNA methyltransferase 3 beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnmt3b"
      },
      {
        "slug": "hells",
        "symbol": "HELLS",
        "hgnc": "HGNC:4861",
        "name": "helicase, lymphoid specific",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hells"
      },
      {
        "slug": "nhp2",
        "symbol": "NHP2",
        "hgnc": "HGNC:14377",
        "name": "NHP2 ribonucleoprotein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nhp2"
      },
      {
        "slug": "nop10",
        "symbol": "NOP10",
        "hgnc": "HGNC:14378",
        "name": "NOP10 ribonucleoprotein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nop10"
      },
      {
        "slug": "npm1",
        "symbol": "NPM1",
        "hgnc": "HGNC:7910",
        "name": "nucleophosmin 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/npm1"
      },
      {
        "slug": "parn",
        "symbol": "PARN",
        "hgnc": "HGNC:8609",
        "name": "poly(A)-specific ribonuclease",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/parn"
      },
      {
        "slug": "rtel1",
        "symbol": "RTEL1",
        "hgnc": "HGNC:15888",
        "name": "regulator of telomere elongation helicase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rtel1"
      },
      {
        "slug": "terc",
        "symbol": "TERC",
        "hgnc": "HGNC:11727",
        "name": "telomerase RNA component",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/terc"
      },
      {
        "slug": "tert",
        "symbol": "TERT",
        "hgnc": "HGNC:11730",
        "name": "telomerase reverse transcriptase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tert"
      },
      {
        "slug": "tinf2",
        "symbol": "TINF2",
        "hgnc": "HGNC:11824",
        "name": "TERF1 interacting nuclear factor 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tinf2"
      },
      {
        "slug": "tyms",
        "symbol": "TYMS",
        "hgnc": "HGNC:12441",
        "name": "thymidylate synthetase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tyms"
      },
      {
        "slug": "uhrf1",
        "symbol": "UHRF1",
        "hgnc": "HGNC:12556",
        "name": "ubiquitin like with PHD and ring finger domains 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uhrf1"
      },
      {
        "slug": "usb1",
        "symbol": "USB1",
        "hgnc": "HGNC:25792",
        "name": "U6 snRNA biogenesis phosphodiesterase 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/usb1"
      },
      {
        "slug": "wrap53",
        "symbol": "WRAP53",
        "hgnc": "HGNC:25522",
        "name": "WD repeat containing antisense to TP53",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/wrap53"
      },
      {
        "slug": "zbtb24",
        "symbol": "ZBTB24",
        "hgnc": "HGNC:21143",
        "name": "zinc finger and BTB domain containing 24",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/zbtb24"
      },
      {
        "slug": "pten",
        "symbol": "PTEN",
        "hgnc": "HGNC:9588",
        "name": "phosphatase and tensin homolog",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pten"
      },
      {
        "slug": "tbce",
        "symbol": "TBCE",
        "hgnc": "HGNC:11582",
        "name": "tubulin folding cofactor E",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbce"
      },
      {
        "slug": "crebbp",
        "symbol": "CREBBP",
        "hgnc": "HGNC:2348",
        "name": "CREB binding lysine acetyltransferase",
        "frequency": "very-rare",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/crebbp"
      },
      {
        "slug": "ep300",
        "symbol": "EP300",
        "hgnc": "HGNC:3373",
        "name": "EP300 lysine acetyltransferase",
        "frequency": "very-rare",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ep300"
      },
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "hgnc": "HGNC:124",
        "name": "acid phosphatase 5, tartrate resistant",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acp5"
      },
      {
        "slug": "rmrp",
        "symbol": "RMRP",
        "hgnc": "HGNC:10031",
        "name": "RNA component of mitochondrial RNA processing endoribonuclease",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rmrp"
      }
    ]
  }
}