{
  "url": "https://dantelabs.com/pt/genes/card11",
  "gene": {
    "slug": "card11",
    "symbol": "CARD11",
    "name": "caspase recruitment domain family member 11",
    "hgnc": "HGNC:16393",
    "summary": null,
    "location": "7p22.2",
    "locusType": "gene with protein product",
    "aliases": [
      "CARMA1",
      "BIMP3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000198286",
    "entrezId": 84433,
    "omim": [
      "607210"
    ],
    "uniprot": [
      "Q9BXL7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 2906142,
      "end": 3043867,
      "strand": "-",
      "ensemblTranscript": "ENST00000396946.9",
      "refseqTranscript": "NM_032415.7",
      "ensemblProtein": "ENSP00000380150.4",
      "refseqProtein": "NP_115791.3",
      "exons": [
        {
          "start": 2906142,
          "end": 2906842
        },
        {
          "start": 2910050,
          "end": 2910165
        },
        {
          "start": 2912172,
          "end": 2912296
        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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        },
        {
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          "end": 2923333
        },
        {
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          "end": 2924365
        },
        {
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          "end": 2926791
        },
        {
          "start": 2928598,
          "end": 2928698
        },
        {
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        },
        {
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        },
        {
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        },
        {
          "start": 2937037,
          "end": 2937234
        },
        {
          "start": 2937907,
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        },
        {
          "start": 2938679,
          "end": 2938831
        },
        {
          "start": 2939749,
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        },
        {
          "start": 2944212,
          "end": 2944537
        },
        {
          "start": 2945819,
          "end": 2945956
        },
        {
          "start": 2947575,
          "end": 2947787
        },
        {
          "start": 2958500,
          "end": 2958631
        },
        {
          "start": 3043667,
          "end": 3043867
        }
      ],
      "cds": {
        "start": 2906638,
        "end": 2958506
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 2945775,
      "end": 3083579,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 2475005,
      "end": 3475004,
      "genes": [
        {
          "symbol": "GRIFIN",
          "ensemblId": "ENSG00000275572",
          "biotype": "protein_coding",
          "start": 2474728,
          "end": 2476894,
          "strand": "-",
          "slug": "grifin"
        },
        {
          "symbol": "LFNG",
          "ensemblId": "ENSG00000106003",
          "biotype": "protein_coding",
          "start": 2512529,
          "end": 2529177,
          "strand": "+",
          "slug": "lfng"
        },
        {
          "symbol": "BRAT1",
          "ensemblId": "ENSG00000106009",
          "biotype": "protein_coding",
          "start": 2537784,
          "end": 2555782,
          "strand": "-",
          "slug": "brat1"
        },
        {
          "symbol": "IQCE",
          "ensemblId": "ENSG00000106012",
          "biotype": "protein_coding",
          "start": 2558903,
          "end": 2614733,
          "strand": "+",
          "slug": "iqce"
        },
        {
          "symbol": "TTYH3",
          "ensemblId": "ENSG00000136295",
          "biotype": "protein_coding",
          "start": 2631898,
          "end": 2664816,
          "strand": "+",
          "slug": "ttyh3"
        },
        {
          "symbol": "AMZ1",
          "ensemblId": "ENSG00000174945",
          "biotype": "protein_coding",
          "start": 2679276,
          "end": 2775500,
          "strand": "+",
          "slug": "amz1"
        },
        {
          "symbol": "GNA12",
          "ensemblId": "ENSG00000146535",
          "biotype": "protein_coding",
          "start": 2721820,
          "end": 2870786,
          "strand": "-",
          "slug": "gna12"
        },
        {
          "symbol": "SDK1",
          "ensemblId": "ENSG00000146555",
          "biotype": "protein_coding",
          "start": 3301252,
          "end": 4269000,
          "strand": "+",
          "slug": "sdk1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "ebv-lymphoproliferation-and-card11-immune-dysregulation",
        "name": "Linfoproliferação associada ao EBV e disregulação imunitária por CARD11",
        "diseases": [
          {
            "mondoId": "MONDO:0014645",
            "name": "Expansão de linfócitos B com NF-kB e anergia de linfócitos T (BENTA)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Causada por alterações de ganho de função no CARD11, leva a uma expansão de linfócitos B, aumento do baço e dos gânglios linfáticos, e infeções recorrentes.",
            "management": "A identificação permite a monitorização de infeções e da progressão para linfoma.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/ebv-lymphoproliferation-and-card11-immune-dysregulation"
      },
      {
        "slug": "severe-combined-immunodeficiency",
        "name": "Imunodeficiência Combinada Grave",
        "diseases": [
          {
            "mondoId": "MONDO:0015974",
            "name": "Imunodeficiência Combinada Grave",
            "genes": 31,
            "inheritance": "autosomal-recessive",
            "description": "A imunodeficiência combinada grave (SCID, na sigla em inglês) engloba um grupo de doenças monogénicas raras de imunodeficiência primária, caracterizadas pela falta de linfócitos T periféricos funcionais, o que resulta em infeções respiratórias graves de início precoce e em dificuldade de desenvolvimento. Estas doenças são classificadas de acordo com o fenótipo imunológico em SCID com ausência de células T mas presença de células B (SCID T-B+) ou SCID com ausência de ambas (SCID T-B-). Ambos estes grupos incluem várias formas, com ou sem células natural killer (NK).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/severe-combined-immunodeficiency"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Outros Erros Inatos da Imunidade",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Erro inato da imunidade",
            "genes": 114,
            "inheritance": null,
            "description": "Doenças hereditárias do sistema imunitário causadas por alterações em genes individuais, que afetam a forma como o organismo combate infeções ou regula a inflamação.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Doença de Imunodeficiência",
            "genes": 170,
            "inheritance": null,
            "description": "Doença em que existe uma deficiência ou defeito nos mecanismos da imunidade, quer celular quer humoral.",
            "management": "Transplante de células-tronco hematopoiéticas (HSCT) para SCID e PID graves; substituição de imunoglobulinas (IVIG/SCIG) para deficiências de anticorpos; leniolisib (Joenja, FDA 2023) para APDS; terapia génica para SCID-ADA; abatacept para deficiência de CTLA4/LRBA; antibióticos profiláticos; G-CSF para CGD",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pt/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "agammaglobulinemia",
        "name": "Agammaglobulinemia",
        "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/agammaglobulinemia"
      },
      {
        "slug": "asthma",
        "name": "Asthma",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/asthma"
      },
      {
        "slug": "atopic-dermatitis",
        "name": "Baby eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/atopic-dermatitis"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "colonic-eosinophilia",
        "name": "Colonic eosinophilia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/colonic-eosinophilia"
      },
      {
        "slug": "decreased-antigen-specific-t-cell-proliferation",
        "name": "Decreased antigen-specific T cell proliferation",
        "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-antigen-specific-t-cell-proliferation"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "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-immunoglobulin-concentration"
      },
      {
        "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-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": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-igm-concentration"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-regulatory-t-cell-proportion",
        "name": "Decreased regulatory T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-regulatory-t-cell-proportion"
      },
      {
        "slug": "decreased-specific-antibody-response-to-unconjugated-polysaccharide-vaccine",
        "name": "Decreased specific antibody response to unconjugated polysaccharide vaccine",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-specific-antibody-response-to-unconjugated-polysaccharide-vaccine"
      },
      {
        "slug": "disseminated-molluscum-contagiosum",
        "name": "Disseminated molluscum contagiosum",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/disseminated-molluscum-contagiosum"
      },
      {
        "slug": "food-allergy",
        "name": "Food allergy",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/food-allergy"
      },
      {
        "slug": "increased-total-eosinophil-count",
        "name": "High blood eosinophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-total-eosinophil-count"
      },
      {
        "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": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "increased-total-b-cell-count",
        "name": "Increased total B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-total-b-cell-count"
      },
      {
        "slug": "decreased-total-monocyte-count",
        "name": "Low blood monocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-monocyte-count"
      },
      {
        "slug": "lymphoid-hyperplasia",
        "name": "Lymphoid hyperplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lymphoid-hyperplasia"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "pneumocystis-jirovecii-pneumonia",
        "name": "Pneumocystis jirovecii pneumonia",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pneumocystis-jirovecii-pneumonia"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "severe-cytomegalovirus-infection",
        "name": "Severe cytomegalovirus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-cytomegalovirus-infection"
      },
      {
        "slug": "ulcerative-colitis",
        "name": "Ulcerative colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ulcerative-colitis"
      }
    ],
    "related": [
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 3,
        "url": "https://dantelabs.com/pt/genes/bcl11b"
      },
      {
        "slug": "cd70",
        "symbol": "CD70",
        "name": "CD70 molecule",
        "shared": 3,
        "url": "https://dantelabs.com/pt/genes/cd70"
      },
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/ada"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/aicda"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/ak2"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/bcl10"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 2,
        "url": "https://dantelabs.com/pt/genes/c1qc"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}