{
  "url": "https://dantelabs.com/traits/combined-immunodeficiency",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "combined-immunodeficiency",
    "id": "HP:0005387",
    "name": "Combined immunodeficiency",
    "definition": "A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.",
    "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-combined-immunodeficiency",
        "name": "Severe combined immunodeficiency",
        "genes": 23,
        "url": "https://dantelabs.com/traits/severe-combined-immunodeficiency"
      }
    ],
    "genes": [
      {
        "slug": "cd19",
        "symbol": "CD19",
        "hgnc": "HGNC:1633",
        "name": "CD19 molecule",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/cd19"
      },
      {
        "slug": "cr2",
        "symbol": "CR2",
        "hgnc": "HGNC:2336",
        "name": "complement C3d receptor 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cr2"
      },
      {
        "slug": "icos",
        "symbol": "ICOS",
        "hgnc": "HGNC:5351",
        "name": "inducible T cell costimulator",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/icos"
      },
      {
        "slug": "icoslg",
        "symbol": "ICOSLG",
        "hgnc": "HGNC:17087",
        "name": "inducible T cell costimulator ligand",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/icoslg"
      },
      {
        "slug": "il2rg",
        "symbol": "IL2RG",
        "hgnc": "HGNC:6010",
        "name": "interleukin 2 receptor subunit gamma",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il2rg"
      },
      {
        "slug": "irf2bp2",
        "symbol": "IRF2BP2",
        "hgnc": "HGNC:21729",
        "name": "interferon regulatory factor 2 binding protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/irf2bp2"
      },
      {
        "slug": "itpr3",
        "symbol": "ITPR3",
        "hgnc": "HGNC:6182",
        "name": "inositol 1,4,5-trisphosphate receptor type 3",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itpr3"
      },
      {
        "slug": "ms4a1",
        "symbol": "MS4A1",
        "hgnc": "HGNC:7315",
        "name": "membrane spanning 4-domains A1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ms4a1"
      },
      {
        "slug": "nfkb2",
        "symbol": "NFKB2",
        "hgnc": "HGNC:7795",
        "name": "nuclear factor kappa B subunit 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfkb2"
      },
      {
        "slug": "rnu6atac",
        "symbol": "RNU6ATAC",
        "hgnc": "HGNC:34017",
        "name": "RNA, U6atac small nuclear",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rnu6atac"
      },
      {
        "slug": "tnfrsf13b",
        "symbol": "TNFRSF13B",
        "hgnc": "HGNC:18153",
        "name": "TNF receptor superfamily member 13B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf13b"
      },
      {
        "slug": "tnfrsf13c",
        "symbol": "TNFRSF13C",
        "hgnc": "HGNC:17755",
        "name": "TNF receptor superfamily member 13C",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tnfrsf13c"
      },
      {
        "slug": "knstrn",
        "symbol": "KNSTRN",
        "hgnc": "HGNC:30767",
        "name": "kinetochore localized astrin (SPAG5) binding protein",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/knstrn"
      },
      {
        "slug": "nfkb1",
        "symbol": "NFKB1",
        "hgnc": "HGNC:7794",
        "name": "nuclear factor kappa B subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfkb1"
      },
      {
        "slug": "pik3cd",
        "symbol": "PIK3CD",
        "hgnc": "HGNC:8977",
        "name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3cd"
      },
      {
        "slug": "pik3r1",
        "symbol": "PIK3R1",
        "hgnc": "HGNC:8979",
        "name": "phosphoinositide-3-kinase regulatory subunit 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pik3r1"
      },
      {
        "slug": "diaph1",
        "symbol": "DIAPH1",
        "hgnc": "HGNC:2876",
        "name": "diaphanous related formin 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/diaph1"
      },
      {
        "slug": "foxn1",
        "symbol": "FOXN1",
        "hgnc": "HGNC:12765",
        "name": "forkhead box N1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxn1"
      },
      {
        "slug": "mgat2",
        "symbol": "MGAT2",
        "hgnc": "HGNC:7045",
        "name": "alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mgat2"
      },
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "hgnc": "HGNC:124",
        "name": "acid phosphatase 5, tartrate resistant",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acp5"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "hgnc": "HGNC:362",
        "name": "adenylate kinase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ak2"
      },
      {
        "slug": "bub1b",
        "symbol": "BUB1B",
        "hgnc": "HGNC:1149",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub1b"
      },
      {
        "slug": "dock2",
        "symbol": "DOCK2",
        "hgnc": "HGNC:2988",
        "name": "dedicator of cytokinesis 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dock2"
      },
      {
        "slug": "ikzf1",
        "symbol": "IKZF1",
        "hgnc": "HGNC:13176",
        "name": "IKAROS family zinc finger 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ikzf1"
      },
      {
        "slug": "rag1",
        "symbol": "RAG1",
        "hgnc": "HGNC:9831",
        "name": "recombination activating 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rag1"
      },
      {
        "slug": "rag2",
        "symbol": "RAG2",
        "hgnc": "HGNC:9832",
        "name": "recombination activating 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rag2"
      }
    ]
  }
}