{
  "url": "https://dantelabs.com/it/genes/ciita",
  "gene": {
    "slug": "ciita",
    "symbol": "CIITA",
    "name": "class II major histocompatibility complex transactivator",
    "hgnc": "HGNC:7067",
    "summary": null,
    "location": "16p13.13",
    "locusType": "gene with protein product",
    "aliases": [
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      "NLRA"
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    "previousSymbols": [
      "MHC2TA"
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    "ensemblId": "ENSG00000179583",
    "entrezId": 4261,
    "omim": [
      "600005"
    ],
    "uniprot": [
      "P33076"
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      "chrom": "16",
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      "strand": "+",
      "ensemblTranscript": "ENST00000324288.14",
      "refseqTranscript": "NM_000246.4",
      "ensemblProtein": "ENSP00000316328.8",
      "refseqProtein": "NP_000237.2",
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      ],
      "cds": {
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        "end": 10923303
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 10971055,
      "end": 11026079,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 10406798,
      "end": 11406797,
      "genes": [
        {
          "symbol": "ATF7IP2",
          "ensemblId": "ENSG00000166669",
          "biotype": "protein_coding",
          "start": 10326434,
          "end": 10483640,
          "strand": "+",
          "slug": "atf7ip2"
        },
        {
          "symbol": "EMP2",
          "ensemblId": "ENSG00000213853",
          "biotype": "protein_coding",
          "start": 10528422,
          "end": 10580857,
          "strand": "-",
          "slug": "emp2"
        },
        {
          "symbol": "TEKT5",
          "ensemblId": "ENSG00000153060",
          "biotype": "protein_coding",
          "start": 10627501,
          "end": 10694930,
          "strand": "-",
          "slug": "tekt5"
        },
        {
          "symbol": "NUBP1",
          "ensemblId": "ENSG00000103274",
          "biotype": "protein_coding",
          "start": 10743786,
          "end": 10769812,
          "strand": "+",
          "slug": "nubp1"
        },
        {
          "symbol": "TVP23A",
          "ensemblId": "ENSG00000166676",
          "biotype": "protein_coding",
          "start": 10760919,
          "end": 10818794,
          "strand": "-",
          "slug": "tvp23a"
        },
        {
          "symbol": "DEXI",
          "ensemblId": "ENSG00000182108",
          "biotype": "protein_coding",
          "start": 10928891,
          "end": 10942481,
          "strand": "-",
          "slug": "dexi"
        },
        {
          "symbol": "CLEC16A",
          "ensemblId": "ENSG00000038532",
          "biotype": "protein_coding",
          "start": 10944508,
          "end": 11189745,
          "strand": "+",
          "slug": "clec16a"
        },
        {
          "symbol": "SOCS1",
          "ensemblId": "ENSG00000185338",
          "biotype": "protein_coding",
          "start": 11246400,
          "end": 11256556,
          "strand": "-",
          "slug": "socs1"
        },
        {
          "symbol": "RMI2",
          "ensemblId": "ENSG00000175643",
          "biotype": "protein_coding",
          "start": 11249619,
          "end": 11381662,
          "strand": "+",
          "slug": "rmi2"
        },
        {
          "symbol": "TNP2",
          "ensemblId": "ENSG00000178279",
          "biotype": "protein_coding",
          "start": 11267748,
          "end": 11269533,
          "strand": "-",
          "slug": "tnp2"
        },
        {
          "symbol": "PRM3",
          "ensemblId": "ENSG00000178257",
          "biotype": "protein_coding",
          "start": 11273199,
          "end": 11273629,
          "strand": "-",
          "slug": "prm3"
        },
        {
          "symbol": "PRM2",
          "ensemblId": "ENSG00000122304",
          "biotype": "protein_coding",
          "start": 11275632,
          "end": 11276488,
          "strand": "-",
          "slug": "prm2"
        },
        {
          "symbol": "PRM1",
          "ensemblId": "ENSG00000175646",
          "biotype": "protein_coding",
          "start": 11280836,
          "end": 11281398,
          "strand": "-",
          "slug": "prm1"
        },
        {
          "symbol": "APOLTP",
          "ensemblId": "ENSG00000188897",
          "biotype": "protein_coding",
          "start": 11359845,
          "end": 11527247,
          "strand": "-",
          "slug": "apoltp"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "severe-combined-immunodeficiency",
        "name": "Immunodeficienza combinata grave",
        "diseases": [
          {
            "mondoId": "MONDO:0015974",
            "name": "Immunodeficienza combinata grave",
            "genes": 31,
            "inheritance": "autosomal-recessive",
            "description": "L'immunodeficienza combinata grave (SCID) comprende un gruppo di rare immunodeficienze primarie di origine monogenica, caratterizzate dalla mancanza di linfociti T periferici funzionali, che porta a infezioni respiratorie gravi a esordio precoce e a un ritardo nella crescita. Tali condizioni vengono classificate in base al fenotipo immunologico in SCID con assenza di cellule T ma presenza di cellule B (SCID T-B+) o SCID con assenza di entrambe (SCID T-B-). Entrambi i gruppi includono diverse forme, con o senza cellule natural killer (NK).",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/severe-combined-immunodeficiency"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Altri errori innati dell'immunità",
        "diseases": [
          {
            "mondoId": "MONDO:0021094",
            "name": "Malattia da immunodeficienza",
            "genes": 170,
            "inheritance": null,
            "description": "Malattia caratterizzata da un deficit o da un'anomalia nei meccanismi dell'immunità, sia essa cellulare o umorale.",
            "management": "HSCT per SCID e PID gravi; terapia sostitutiva con immunoglobuline (IVIG/SCIG) per i deficit anticorpali; leniolisib (Joenja, FDA 2023) per APDS; terapia genica per ADA-SCID; abatacept per il deficit di CTLA4/LRBA; profilassi antibiotica; G-CSF per CGD",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/it/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cd4-cd8-ratio",
        "name": "Abnormal CD4:CD8 ratio",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cd4-cd8-ratio"
      },
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormality-of-humoral-immunity",
        "name": "Abnormality of humoral immunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-humoral-immunity"
      },
      {
        "slug": "acute-otitis-media",
        "name": "Acute middle ear infection",
        "systems": [
          "abnormality-of-the-ear",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-otitis-media"
      },
      {
        "slug": "agammaglobulinemia",
        "name": "Agammaglobulinemia",
        "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/agammaglobulinemia"
      },
      {
        "slug": "anti-citrullinated-protein-antibody-positivity",
        "name": "Anti-citrullinated protein antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/anti-citrullinated-protein-antibody-positivity"
      },
      {
        "slug": "autoimmune-hemolytic-anemia",
        "name": "Autoimmune hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia"
      },
      {
        "slug": "autoimmune-neutropenia",
        "name": "Autoimmune neutropenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmune-neutropenia"
      },
      {
        "slug": "autoimmune-thrombocytopenia",
        "name": "Autoimmune thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmune-thrombocytopenia"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "cholangitis",
        "name": "Bile duct inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/cholangitis"
      },
      {
        "slug": "biliary-tract-abnormality",
        "name": "Biliary tract abnormality",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/biliary-tract-abnormality"
      },
      {
        "slug": "infectious-encephalitis",
        "name": "Brain inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/infectious-encephalitis"
      },
      {
        "slug": "chronic-hepatitis-due-to-cryptosporidium-infection",
        "name": "Chronic hepatitis due to cryptosporidium infection",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/chronic-hepatitis-due-to-cryptosporidium-infection"
      },
      {
        "slug": "chronic-lymphocytic-meningitis",
        "name": "Chronic lymphocytic meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/chronic-lymphocytic-meningitis"
      },
      {
        "slug": "colitis",
        "name": "Colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/colitis"
      },
      {
        "slug": "cutaneous-anergy",
        "name": "Cutaneous anergy",
        "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/cutaneous-anergy"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "decreased-circulating-beta-2-microglobulin-concentration",
        "name": "Decreased circulating beta-2-microglobulin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-beta-2-microglobulin-concentration"
      },
      {
        "slug": "decreased-mitogen-induced-t-cell-proliferation",
        "name": "Decreased mitogen-induced T-cell proliferation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-mitogen-induced-t-cell-proliferation"
      },
      {
        "slug": "decreased-total-cd4-t-cell-proportion",
        "name": "Decreased total CD4+ T cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-cd4-t-cell-proportion"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "recurrent-urinary-tract-infections",
        "name": "Frequent urinary tract infections",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections"
      },
      {
        "slug": "elevated-erythrocyte-sedimentation-rate",
        "name": "High ESR",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate"
      },
      {
        "slug": "abnormal-t-cell-physiology",
        "name": "Impaired T cell function",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-t-cell-physiology"
      },
      {
        "slug": "gait-ataxia",
        "name": "Inability to coordinate movements when walking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/gait-ataxia"
      },
      {
        "slug": "vasculitis",
        "name": "Inflammation of blood vessel",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/vasculitis"
      },
      {
        "slug": "interphalangeal-joint-erosions",
        "name": "Interphalangeal joint erosions",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/interphalangeal-joint-erosions"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "joint-swelling",
        "name": "Joint swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/joint-swelling"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "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": "decreased-total-t-cell-count",
        "name": "Low T cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-t-cell-count"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "rhinitis",
        "name": "Nasal inflammation",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/rhinitis"
      },
      {
        "slug": "panhypogammaglobulinemia",
        "name": "Panhypogammaglobulinemia",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/panhypogammaglobulinemia"
      },
      {
        "slug": "polyarticular-arthritis",
        "name": "Polyarticular arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/polyarticular-arthritis"
      },
      {
        "slug": "protracted-diarrhea",
        "name": "Protracted diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/protracted-diarrhea"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-candida-infection",
        "name": "Recurrent Candida infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-candida-infection"
      },
      {
        "slug": "recurrent-lower-respiratory-tract-infections",
        "name": "Recurrent chest infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-fungal-infections",
        "name": "Recurrent fungal infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fungal-infections"
      },
      {
        "slug": "recurrent-infection-of-the-gastrointestinal-tract",
        "name": "Recurrent infection of the gastrointestinal tract",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-infection-of-the-gastrointestinal-tract"
      },
      {
        "slug": "recurrent-mucocutaneous-candidiasis",
        "name": "Recurrent mucocutaneous candidiasis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-mucocutaneous-candidiasis"
      },
      {
        "slug": "recurrent-protozoan-infections",
        "name": "Recurrent protozoan infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-protozoan-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-staphylococcus-aureus-infection",
        "name": "Recurrent Staphylococcus aureus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-staphylococcus-aureus-infection"
      },
      {
        "slug": "recurrent-viral-infections",
        "name": "Recurrent viral infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-viral-infections"
      },
      {
        "slug": "reduced-mhc-ii-cell-surface-expression",
        "name": "Reduced MHC II cell surface expression",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-mhc-ii-cell-surface-expression"
      },
      {
        "slug": "rheumatoid-arthritis",
        "name": "Rheumatoid arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/rheumatoid-arthritis"
      },
      {
        "slug": "rheumatoid-factor-positive",
        "name": "Rheumatoid factor positive",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/rheumatoid-factor-positive"
      },
      {
        "slug": "sclerosing-cholangitis",
        "name": "Sclerosing cholangitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sclerosing-cholangitis"
      },
      {
        "slug": "sinusitis",
        "name": "Sinus disease",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sinusitis"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "recurrent-herpes",
        "name": "Susceptibility to herpesvirus",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-herpes"
      },
      {
        "slug": "swan-neck-like-deformities-of-the-fingers",
        "name": "Swan neck-like deformities of the fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/swan-neck-like-deformities-of-the-fingers"
      },
      {
        "slug": "digital-flexor-tenosynovitis",
        "name": "Trigger finger",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/digital-flexor-tenosynovitis"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/villous-atrophy"
      },
      {
        "slug": "viral-hepatitis",
        "name": "Viral hepatitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/viral-hepatitis"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "ada",
        "symbol": "ADA",
        "name": "adenosine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/ada"
      },
      {
        "slug": "ak2",
        "symbol": "AK2",
        "name": "adenylate kinase 2",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/ak2"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/bcl11b"
      },
      {
        "slug": "card11",
        "symbol": "CARD11",
        "name": "caspase recruitment domain family member 11",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/card11"
      },
      {
        "slug": "carmil2",
        "symbol": "CARMIL2",
        "name": "capping protein regulator and myosin 1 linker 2",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/carmil2"
      },
      {
        "slug": "cd247",
        "symbol": "CD247",
        "name": "CD247 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/cd247"
      },
      {
        "slug": "cd3d",
        "symbol": "CD3D",
        "name": "CD3 delta subunit of T-cell receptor complex",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/cd3d"
      },
      {
        "slug": "cd3e",
        "symbol": "CD3E",
        "name": "CD3 epsilon subunit of T-cell receptor complex",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/cd3e"
      },
      {
        "slug": "cd70",
        "symbol": "CD70",
        "name": "CD70 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/cd70"
      },
      {
        "slug": "coro1a",
        "symbol": "CORO1A",
        "name": "coronin 1A",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/coro1a"
      },
      {
        "slug": "dclre1c",
        "symbol": "DCLRE1C",
        "name": "DNA cross-link repair 1C",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/dclre1c"
      },
      {
        "slug": "foxn1",
        "symbol": "FOXN1",
        "name": "forkhead box N1",
        "shared": 2,
        "url": "https://dantelabs.com/it/genes/foxn1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}