{
  "url": "https://dantelabs.com/fr/genes/irf2bp2",
  "gene": {
    "slug": "irf2bp2",
    "symbol": "IRF2BP2",
    "name": "interferon regulatory factor 2 binding protein 2",
    "hgnc": "HGNC:21729",
    "summary": null,
    "location": "1q42.3",
    "locusType": "gene with protein product",
    "aliases": [
      "LRIR2",
      "IRF-2BP2"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000168264",
    "entrezId": 359948,
    "omim": [
      "615332"
    ],
    "uniprot": [
      "Q7Z5L9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 234604269,
      "end": 234610178,
      "strand": "-",
      "ensemblTranscript": "ENST00000366609.4",
      "refseqTranscript": "NM_182972.3",
      "ensemblProtein": "ENSP00000355568.3",
      "refseqProtein": "NP_892017.2",
      "exons": [
        {
          "start": 234604269,
          "end": 234607852
        },
        {
          "start": 234608447,
          "end": 234610178
        }
      ],
      "cds": {
        "start": 234607137,
        "end": 234609494
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 234740015,
      "end": 234745271,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 234107224,
      "end": 235107223,
      "genes": [
        {
          "symbol": "SLC35F3",
          "ensemblId": "ENSG00000183780",
          "biotype": "protein_coding",
          "start": 233904477,
          "end": 234326085,
          "strand": "+",
          "slug": "slc35f3"
        },
        {
          "symbol": "COA6",
          "ensemblId": "ENSG00000168275",
          "biotype": "protein_coding",
          "start": 234373438,
          "end": 234385080,
          "strand": "+",
          "slug": "coa6"
        },
        {
          "symbol": "TARBP1",
          "ensemblId": "ENSG00000059588",
          "biotype": "protein_coding",
          "start": 234391304,
          "end": 234479197,
          "strand": "-",
          "slug": "tarbp1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "common-variable-immunodeficiency",
        "name": "Immunodéficience variable commune (CVID) monogénique",
        "diseases": [
          {
            "mondoId": "MONDO:0015517",
            "name": "Immunodéficience variable commune",
            "genes": 10,
            "inheritance": null,
            "description": "IgG basses avec IgA et/ou IgM basses et réponse vaccinale faible ; les formes monogéniques incluent NFKB1, NFKB2, ICOS, CD19, CD81, CR2, IKZF1, IRF2BP2, SEC61A1 et TNFRSF13B (TACI).",
            "management": "Le traitement de référence comprend le remplacement par immunoglobulines et la prise en charge précoce des infections. Une cause génétique peut guider la surveillance des maladies auto-immunes, des lymphomes et des atteintes pulmonaires, et certaines formes (comme le déficit en LRBA) répondent à un traitement ciblé.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/common-variable-immunodeficiency"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Autres erreurs innées de l'immunité",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Erreur innée de l'immunité",
            "genes": 114,
            "inheritance": null,
            "description": "Maladies héréditaires du système immunitaire causées par des modifications de gènes uniques, qui affectent la manière dont l'organisme combat les infections ou régule l'inflammation.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Déficit immunitaire",
            "genes": 170,
            "inheritance": null,
            "description": "Maladie caractérisée par une déficience ou une anomalie des mécanismes de l'immunité, qu'elle soit cellulaire ou humorale.",
            "management": "HSCT pour le SCID et les DIP sévères ; traitement substitutif par immunoglobulines (IVIG/SCIG) pour les déficits en anticorps ; leniolisib (Joenja, FDA 2023) pour l'APDS ; thérapie génique pour l'ADA-SCID ; abatacept pour le déficit en CTLA4/LRBA ; antibioprophylaxie ; G-CSF pour la CGD",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/fr/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "metrorrhagia",
        "name": "Abnormal uterus bleeding",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/metrorrhagia"
      },
      {
        "slug": "addictive-alcohol-use",
        "name": "Addictive alcohol use",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/addictive-alcohol-use"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "gingival-bleeding",
        "name": "Bleeding gums",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gingival-bleeding"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "hematuria",
        "name": "Blood in urine",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hematuria"
      },
      {
        "slug": "purpura",
        "name": "Blood spots",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/purpura"
      },
      {
        "slug": "epistaxis",
        "name": "Bloody nose",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epistaxis"
      },
      {
        "slug": "bone-marrow-hypercellularity",
        "name": "Bone marrow hypercellularity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bone-marrow-hypercellularity"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "bruising-susceptibility",
        "name": "Bruising susceptibility",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bruising-susceptibility"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "chronic-infection",
        "name": "Chronic infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-infection"
      },
      {
        "slug": "combined-immunodeficiency",
        "name": "Combined immunodeficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/combined-immunodeficiency"
      },
      {
        "slug": "gangrene",
        "name": "Death of body tissue due to lack of blood flow or infection",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gangrene"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "decreased-circulating-iga-concentration",
        "name": "Decreased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration"
      },
      {
        "slug": "decreased-circulating-igg-concentration",
        "name": "Decreased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration"
      },
      {
        "slug": "decreased-circulating-igm-concentration",
        "name": "Decreased circulating IgM concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "decreased-class-switched-memory-b-cell-proportion",
        "name": "Decreased class-switched memory B cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-class-switched-memory-b-cell-proportion"
      },
      {
        "slug": "decreased-specific-antibody-response-to-vaccination",
        "name": "Decreased specific antibody response to vaccination",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-specific-antibody-response-to-vaccination"
      },
      {
        "slug": "defective-b-cell-differentiation",
        "name": "Defective B cell differentiation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/defective-b-cell-differentiation"
      },
      {
        "slug": "diffuse-alveolar-hemorrhage",
        "name": "Diffuse alveolar hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diffuse-alveolar-hemorrhage"
      },
      {
        "slug": "disseminated-intravascular-coagulation",
        "name": "Disseminated intravascular coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/disseminated-intravascular-coagulation"
      },
      {
        "slug": "vertigo",
        "name": "Dizziness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vertigo"
      },
      {
        "slug": "ecchymosis",
        "name": "Ecchymosis",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ecchymosis"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "exertional-dyspnea",
        "name": "Exertional breathlessness",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/exertional-dyspnea"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "gingival-overgrowth",
        "name": "Gum enlargement",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gingival-overgrowth"
      },
      {
        "slug": "hypofibrinogenemia",
        "name": "Hypofibrinogenemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypofibrinogenemia"
      },
      {
        "slug": "stomatitis",
        "name": "Inflammation of the mouth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stomatitis"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "oral-cavity-bleeding",
        "name": "Oral cavity bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oral-cavity-bleeding"
      },
      {
        "slug": "petechiae",
        "name": "Petechiae",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/petechiae"
      },
      {
        "slug": "psoriasiform-dermatitis",
        "name": "Psoriasiform dermatitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/psoriasiform-dermatitis"
      },
      {
        "slug": "recurrent-sinusitis",
        "name": "Recurrent sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-sinusitis"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      },
      {
        "slug": "productive-cough",
        "name": "Wet cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/productive-cough"
      }
    ],
    "related": [
      {
        "slug": "cd19",
        "symbol": "CD19",
        "name": "CD19 molecule",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/cd19"
      },
      {
        "slug": "cr2",
        "symbol": "CR2",
        "name": "complement C3d receptor 2",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/cr2"
      },
      {
        "slug": "icos",
        "symbol": "ICOS",
        "name": "inducible T cell costimulator",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/icos"
      },
      {
        "slug": "ikzf1",
        "symbol": "IKZF1",
        "name": "IKAROS family zinc finger 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/ikzf1"
      },
      {
        "slug": "lrba",
        "symbol": "LRBA",
        "name": "LPS responsive beige-like anchor protein",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/lrba"
      },
      {
        "slug": "nfkb1",
        "symbol": "NFKB1",
        "name": "nuclear factor kappa B subunit 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/nfkb1"
      },
      {
        "slug": "nfkb2",
        "symbol": "NFKB2",
        "name": "nuclear factor kappa B subunit 2",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/nfkb2"
      },
      {
        "slug": "sec61a1",
        "symbol": "SEC61A1",
        "name": "SEC61 translocon subunit alpha 1",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/sec61a1"
      },
      {
        "slug": "tnfrsf13b",
        "symbol": "TNFRSF13B",
        "name": "TNF receptor superfamily member 13B",
        "shared": 3,
        "url": "https://dantelabs.com/fr/genes/tnfrsf13b"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/fr/genes/bcl10"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}