{
  "url": "https://dantelabs.com/de/genes/irak4",
  "gene": {
    "slug": "irak4",
    "symbol": "IRAK4",
    "name": "interleukin 1 receptor associated kinase 4",
    "hgnc": "HGNC:17967",
    "summary": null,
    "location": "12q12",
    "locusType": "gene with protein product",
    "aliases": [
      "NY-REN-64"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000198001",
    "entrezId": 51135,
    "omim": [
      "606883"
    ],
    "uniprot": [
      "Q9NWZ3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 43758951,
      "end": 43789541,
      "strand": "+",
      "ensemblTranscript": "ENST00000613694.5",
      "refseqTranscript": "NM_016123.4",
      "ensemblProtein": "ENSP00000479889.3",
      "refseqProtein": "NP_057207.2",
      "exons": [
        {
          "start": 43758951,
          "end": 43759016
        },
        {
          "start": 43768103,
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        },
        {
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        {
          "start": 43772180,
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        },
        {
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        {
          "start": 43773965,
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        },
        {
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        {
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        {
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        {
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        },
        {
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        }
      ],
      "cds": {
        "start": 43768112,
        "end": 43786715
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 44152747,
      "end": 44183346,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 43274246,
      "end": 44274245,
      "genes": [
        {
          "symbol": "ADAMTS20",
          "ensemblId": "ENSG00000173157",
          "biotype": "protein_coding",
          "start": 43352767,
          "end": 43552213,
          "strand": "-",
          "slug": "adamts20"
        },
        {
          "symbol": "PUS7L",
          "ensemblId": "ENSG00000129317",
          "biotype": "protein_coding",
          "start": 43718992,
          "end": 43759193,
          "strand": "-",
          "slug": "pus7l"
        },
        {
          "symbol": "TWF1",
          "ensemblId": "ENSG00000151239",
          "biotype": "protein_coding",
          "start": 43793460,
          "end": 43806328,
          "strand": "-",
          "slug": "twf1"
        },
        {
          "symbol": "TMEM117",
          "ensemblId": "ENSG00000139173",
          "biotype": "protein_coding",
          "start": 43835749,
          "end": 44389762,
          "strand": "+",
          "slug": "tmem117"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "immunodeficiency-disease",
        "name": "Sonstige angeborene Immundefekte",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Immundefekterkrankung",
            "genes": 170,
            "inheritance": null,
            "description": "Erkrankung, bei der ein Mangel oder Defekt der Immunmechanismen vorliegt, entweder zellulärer oder humoraler Art.",
            "management": "HSCT bei SCID und schweren PID; Immunglobulinsubstitution (IVIG/SCIG) bei Antikörpermangelerkrankungen; Leniolisib (Joenja, FDA 2023) bei APDS; Gentherapie bei ADA-SCID; Abatacept bei CTLA4/LRBA-Mangel; prophylaktische Antibiotika; G-CSF bei CGD",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/de/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "complete-or-near-complete-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide",
        "name": "Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/complete-or-near-complete-absence-of-specific-antibody-response-to-unconjugated-pneumococcus-polysaccharide"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "increased-circulating-ige-concentration",
        "name": "Increased circulating IgE concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-ige-concentration"
      },
      {
        "slug": "septic-arthritis",
        "name": "Infected joint",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/septic-arthritis"
      },
      {
        "slug": "liver-abscess",
        "name": "Liver abscess",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/liver-abscess"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-bacterial-skin-infections",
        "name": "Recurrent bacterial skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-skin-infections"
      },
      {
        "slug": "recurrent-staphylococcal-infections",
        "name": "Recurrent staphylococcal infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-staphylococcal-infections"
      },
      {
        "slug": "recurrent-streptococcal-infections",
        "name": "Recurrent streptococcal infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-streptococcal-infections"
      },
      {
        "slug": "recurrent-streptococcus-pneumoniae-infections",
        "name": "Recurrent streptococcus pneumoniae infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-streptococcus-pneumoniae-infections"
      },
      {
        "slug": "transiently-decreased-total-neutrophil-count",
        "name": "Transiently decreased total neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/transiently-decreased-total-neutrophil-count"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/ak2"
      },
      {
        "slug": "arpc1b",
        "symbol": "ARPC1B",
        "name": "actin related protein 2/3 complex subunit 1B",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arpc1b"
      },
      {
        "slug": "arpc5",
        "symbol": "ARPC5",
        "name": "actin related protein 2/3 complex subunit 5",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/arpc5"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atm"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/atp6ap1"
      },
      {
        "slug": "b2m",
        "symbol": "B2M",
        "name": "beta-2-microglobulin",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/b2m"
      },
      {
        "slug": "bach2",
        "symbol": "BACH2",
        "name": "BACH transcriptional regulator 2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bach2"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/blnk"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}