{
  "url": "https://dantelabs.com/ro/genes/stat1",
  "gene": {
    "slug": "stat1",
    "symbol": "STAT1",
    "name": "signal transducer and activator of transcription 1",
    "hgnc": "HGNC:11362",
    "summary": null,
    "location": "2q32.2",
    "locusType": "gene with protein product",
    "aliases": [
      "STAT91",
      "ISGF-3"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000115415",
    "entrezId": 6772,
    "omim": [
      "600555"
    ],
    "uniprot": [
      "P42224"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "2",
      "start": 190969149,
      "end": 191014171,
      "strand": "-",
      "ensemblTranscript": "ENST00000361099.8",
      "refseqTranscript": "NM_007315.4",
      "ensemblProtein": "ENSP00000354394.4",
      "refseqProtein": "NP_009330.1",
      "exons": [
        {
          "start": 190969149,
          "end": 190970717
        },
        {
          "start": 190974830,
          "end": 190974932
        },
        {
          "start": 190975812,
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        },
        {
          "start": 190976840,
          "end": 190977025
        },
        {
          "start": 190978856,
          "end": 190979001
        },
        {
          "start": 190979772,
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        },
        {
          "start": 190980620,
          "end": 190980669
        },
        {
          "start": 190982383,
          "end": 190982518
        },
        {
          "start": 190983642,
          "end": 190983740
        },
        {
          "start": 190984310,
          "end": 190984393
        },
        {
          "start": 190985619,
          "end": 190985660
        },
        {
          "start": 190986854,
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        },
        {
          "start": 190987039,
          "end": 190987068
        },
        {
          "start": 190989615,
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        },
        {
          "start": 190991228,
          "end": 190991320
        },
        {
          "start": 190995061,
          "end": 190995219
        },
        {
          "start": 190997856,
          "end": 190998007
        },
        {
          "start": 190998217,
          "end": 190998308
        },
        {
          "start": 190999626,
          "end": 190999704
        },
        {
          "start": 191001074,
          "end": 191001163
        },
        {
          "start": 191007563,
          "end": 191007661
        },
        {
          "start": 191008963,
          "end": 191009107
        },
        {
          "start": 191009876,
          "end": 191010004
        },
        {
          "start": 191013525,
          "end": 191013678
        },
        {
          "start": 191014018,
          "end": 191014171
        }
      ],
      "cds": {
        "start": 190970703,
        "end": 191010003
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "2",
      "start": 191829084,
      "end": 191885686,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 190491660,
      "end": 191491659,
      "genes": [
        {
          "symbol": "MFSD6",
          "ensemblId": "ENSG00000151690",
          "biotype": "protein_coding",
          "start": 190407896,
          "end": 190509205,
          "strand": "+",
          "slug": "mfsd6"
        },
        {
          "symbol": "NEMP2",
          "ensemblId": "ENSG00000189362",
          "biotype": "protein_coding",
          "start": 190434216,
          "end": 190534787,
          "strand": "-",
          "slug": "nemp2"
        },
        {
          "symbol": "NAB1",
          "ensemblId": "ENSG00000138386",
          "biotype": "protein_coding",
          "start": 190646746,
          "end": 190695528,
          "strand": "+",
          "slug": "nab1"
        },
        {
          "symbol": "GLS",
          "ensemblId": "ENSG00000115419",
          "biotype": "protein_coding",
          "start": 190880322,
          "end": 190965552,
          "strand": "+",
          "slug": "gls"
        },
        {
          "symbol": "STAT4",
          "ensemblId": "ENSG00000138378",
          "biotype": "protein_coding",
          "start": 191029570,
          "end": 191178435,
          "strand": "-",
          "slug": "stat4"
        },
        {
          "symbol": "MYO1B",
          "ensemblId": "ENSG00000128641",
          "biotype": "protein_coding",
          "start": 191245064,
          "end": 191425820,
          "strand": "+",
          "slug": "myo1b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autoimmune-disease",
        "name": "Boli autoimune",
        "diseases": [
          {
            "mondoId": "MONDO:0007179",
            "name": "Boli autoimune",
            "genes": 20,
            "inheritance": null,
            "description": "Tulburare care rezultă din pierderea funcției sau din distrugerea țesutului unui organ sau a mai multor organe, cauzată de răspunsurile imune umorale sau celulare ale organismului împotriva propriilor constituenți tisulari. Poate fi sistemică (de exemplu, lupusul eritematos sistemic) sau specifică unui organ (de exemplu, tiroidita).",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/autoimmune-disease"
      },
      {
        "slug": "chronic-mucocutaneous-candidiasis",
        "name": "Candidoză mucocutanată cronică",
        "diseases": [
          {
            "mondoId": "MONDO:0015279",
            "name": "Candidoză mucocutanată cronică",
            "genes": 4,
            "inheritance": null,
            "description": "Infecții persistente sau recurente cu Candida ale pielii, unghiilor și mucoaselor, cauzate de modificări ale unor gene precum STAT1, IL17RA, IL17RC, IL17F și TRAF3IP2.",
            "management": "Cunoașterea cauzei ghidează tratamentul antifungic pe termen lung și, în cazul gain-of-function al genei STAT1, monitorizarea pentru autoimunitate și anevrisme, precum și luarea în considerare a terapiei ținta cu inhibitori JAK.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/chronic-mucocutaneous-candidiasis"
      },
      {
        "slug": "mendelian-susceptibility-to-mycobacterial-disease",
        "name": "Susceptibilitatea mendeliană la boli micobacteriene (MSMD)",
        "diseases": [
          {
            "mondoId": "MONDO:0013427",
            "name": "Deficit complet de STAT1",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Infecții micobacteriene severe și infecții virale cu potențial letal, cauzate de modificări la ambele copii ale genei STAT1.",
            "management": "De obicei este necesară transplantarea de celule stem.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0019146",
            "name": "Susceptibilitatea mendeliană la boli micobacteriene",
            "genes": 8,
            "inheritance": null,
            "description": "Defecte ereditare ale căii IL-12/interferon-gamma, cauzate de gene precum IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, ISG15 și RORC.",
            "management": "Persoanele afectate și rudele aflate în risc ar trebui să evite vaccinul BCG și alte vaccinuri vii; infecțiile necesită tratament prelungit, iar unele forme răspund la interferon-gamma.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/mendelian-susceptibility-to-mycobacterial-disease"
      },
      {
        "slug": "stat1-stat3-gain-of-function",
        "name": "Boala prin câștig de funcție STAT1 și STAT3",
        "diseases": [
          {
            "mondoId": "MONDO:0013599",
            "name": "Boala prin câștig de funcție STAT1 cu autoimunitate",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Enteropatie, autoimunitate endocrină, infecții bacteriene și fungice și statură scundă, cauzate de o modificare activatoare a STAT1.",
            "management": "Inhibitorii JAK pot controla simptomele, iar monitorizarea pentru anevrisme și infecții este recomandată.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/stat1-stat3-gain-of-function"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Alte erori înnăscute ale imunității",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Imunodeficiență primară",
            "genes": 114,
            "inheritance": null,
            "description": "Tulburări ereditare ale sistemului imunitar, cauzate de modificări ale unor gene individuale, care afectează modul în care organismul combate infecțiile sau reglează inflamația.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": true
          },
          {
            "mondoId": "MONDO:0021094",
            "name": "Boală de imunodeficiență",
            "genes": 170,
            "inheritance": null,
            "description": "Boală în care există o deficiență sau un defect al mecanismelor imunității, fie celulare, fie umorale.",
            "management": "Transplant de celule stem hematopoietice (HSCT) pentru SCID și imunodeficiențe primare (PID) severe; substituție cu imunoglobuline (IVIG/SCIG) pentru deficiențele de anticorpi; leniolisib (Joenja, FDA 2023) pentru APDS; terapie genică pentru SCID-ADA; abatacept pentru deficiența CTLA4/LRBA; antibiotice profilactice; G-CSF pentru CGD",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ro/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-interferon-gamma-concentration",
        "name": "Abnormal circulating interferon-gamma concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-circulating-interferon-gamma-concentration"
      },
      {
        "slug": "abnormality-of-the-endocrine-system",
        "name": "Abnormality of the endocrine system",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-endocrine-system"
      },
      {
        "slug": "abnormal-intestine-morphology",
        "name": "Abnormality of the intestine",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-intestine-morphology"
      },
      {
        "slug": "antiphospholipid-antibody-positivity",
        "name": "Antiphospholipid antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/antiphospholipid-antibody-positivity"
      },
      {
        "slug": "autoimmune-hemolytic-anemia",
        "name": "Autoimmune hemolytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "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": "bcgitis",
        "name": "BCGitis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bcgitis"
      },
      {
        "slug": "osteomyelitis",
        "name": "Bone infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteomyelitis"
      },
      {
        "slug": "dilatation-of-the-cerebral-artery",
        "name": "Brain aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery"
      },
      {
        "slug": "infectious-encephalitis",
        "name": "Brain inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infectious-encephalitis"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "carotid-artery-dilatation",
        "name": "Carotid artery dilatation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/carotid-artery-dilatation"
      },
      {
        "slug": "recurrent-oral-thrush",
        "name": "Chronic oral thrush",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-oral-thrush"
      },
      {
        "slug": "coccidioidomycosis",
        "name": "Coccidioidomycosis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coccidioidomycosis"
      },
      {
        "slug": "cough",
        "name": "Cough",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cough"
      },
      {
        "slug": "decreased-anti-cd3-28-induced-t-cell-proliferation",
        "name": "Decreased anti-CD3/28-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": "obligate",
        "url": "https://dantelabs.com/traits/decreased-anti-cd3-28-induced-t-cell-proliferation"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "diabetes-mellitus",
        "name": "Diabetes mellitus",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diabetes-mellitus"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "enterocolitis",
        "name": "Enterocolitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/enterocolitis"
      },
      {
        "slug": "esophageal-carcinoma",
        "name": "Esophageal carcinoma",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esophageal-carcinoma"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "functional-abnormality-of-the-bladder",
        "name": "Functional abnormality of the bladder",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/functional-abnormality-of-the-bladder"
      },
      {
        "slug": "gastrointestinal-eosinophilia",
        "name": "Gastrointestinal eosinophilia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-eosinophilia"
      },
      {
        "slug": "generalized-osteoporosis",
        "name": "Generalized osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-osteoporosis"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hsv-encephalitis",
        "name": "HSV encephalitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hsv-encephalitis"
      },
      {
        "slug": "immune-dysregulation",
        "name": "Immune dysregulation",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/immune-dysregulation"
      },
      {
        "slug": "impaired-phytohemagglutinin-induced-t-lymphocyte-transformation",
        "name": "Impaired phytohemagglutinin-induced T lymphocyte transformation",
        "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/impaired-phytohemagglutinin-induced-t-lymphocyte-transformation"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "inflammatory-abnormality-of-the-skin",
        "name": "Inflammatory abnormality of the skin",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inflammatory-abnormality-of-the-skin"
      },
      {
        "slug": "intussusception",
        "name": "Intussusception",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intussusception"
      },
      {
        "slug": "hepatitis",
        "name": "Liver inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatitis"
      },
      {
        "slug": "decreased-total-b-cell-count",
        "name": "Low B cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-total-b-cell-count"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "decreased-total-t-cell-count",
        "name": "Low T cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-t-cell-count"
      },
      {
        "slug": "medial-calcification-of-large-arteries",
        "name": "Medial calcification of large arteries",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/medial-calcification-of-large-arteries"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "renal-artery-stenosis",
        "name": "Narrowing of kidney artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-artery-stenosis"
      },
      {
        "slug": "oropharyngeal-squamous-cell-carcinoma",
        "name": "Oropharyngeal squamous cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oropharyngeal-squamous-cell-carcinoma"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "bronchiectasis",
        "name": "Permanent enlargement of the airways of the lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bronchiectasis"
      },
      {
        "slug": "primary-hypothyroidism",
        "name": "Primary hypothyroidism",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/primary-hypothyroidism"
      },
      {
        "slug": "protein-losing-enteropathy",
        "name": "Protein-losing enteropathy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/protein-losing-enteropathy"
      },
      {
        "slug": "recurrent-aspergillus-infection",
        "name": "Recurrent Aspergillus infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-aspergillus-infection"
      },
      {
        "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"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-mucocutaneous-candidiasis",
        "name": "Recurrent mucocutaneous candidiasis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/recurrent-mucocutaneous-candidiasis"
      },
      {
        "slug": "recurrent-mycobacterial-infections",
        "name": "Recurrent mycobacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-mycobacterial-infections"
      },
      {
        "slug": "recurrent-mycobacterium-avium-complex-infections",
        "name": "Recurrent mycobacterium avium complex infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-mycobacterium-avium-complex-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "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": "recurrent-vulvovaginal-candidiasis",
        "name": "Recurrent vulvovaginal candidiasis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-vulvovaginal-candidiasis"
      },
      {
        "slug": "renovascular-hypertension",
        "name": "Renovascular hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renovascular-hypertension"
      },
      {
        "slug": "severe-histoplasma-capsulatum-infection",
        "name": "Severe Histoplasma capsulatum infection",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-histoplasma-capsulatum-infection"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "pulmonary-nodule",
        "name": "Spot on the lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-nodule"
      },
      {
        "slug": "recurrent-herpes",
        "name": "Susceptibility to herpesvirus",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-herpes"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "thyroiditis",
        "name": "Thyroid gland inflammation",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thyroiditis"
      },
      {
        "slug": "type-i-diabetes-mellitus",
        "name": "Type 1 diabetes",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-i-diabetes-mellitus"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "unusual-fungal-nail-infection",
        "name": "Unusual fungal nail infection",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unusual-fungal-nail-infection"
      },
      {
        "slug": "villous-atrophy",
        "name": "Villous atrophy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/villous-atrophy"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/c1qa"
      },
      {
        "slug": "il17ra",
        "symbol": "IL17RA",
        "name": "interleukin 17 receptor A",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/il17ra"
      },
      {
        "slug": "stat3",
        "symbol": "STAT3",
        "name": "signal transducer and activator of transcription 3",
        "shared": 3,
        "url": "https://dantelabs.com/ro/genes/stat3"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/aicda"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/blnk"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/btk"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/c1qb"
      },
      {
        "slug": "c1qc",
        "symbol": "C1QC",
        "name": "complement C1q C chain",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/c1qc"
      },
      {
        "slug": "c1s",
        "symbol": "C1S",
        "name": "complement C1s",
        "shared": 2,
        "url": "https://dantelabs.com/ro/genes/c1s"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}