{
  "id": 3570,
  "label": "dysgammaglobulinemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001342",
  "properties": {
    "xrefs": [
      "DOID:11702",
      "GARD:0022925",
      "HP:0002961",
      "MEDGEN:41679",
      "MESH:D004406",
      "SCTID:123782009",
      "UMLS:C0013374"
    ],
    "synonyms": [
      "dysgammaglobulinemia",
      "dysgammaglobulinemia (disease)",
      "dysgammaglobulinemia (finding)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 5619,
      "label": "selective immunoglobulin deficiency disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4332
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6025",
          "GARD:0023643",
          "MEDGEN:235584",
          "NCIT:C27870",
          "UMLS:C1335942"
        ],
        "synonyms": [
          "selective Immunoglobulin isotype deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity."
      },
      "child_count": 2,
      "reference_id": "MONDO:0003739"
    }
  ],
  "children": [
    {
      "id": 3569,
      "label": "selective IgA deficiency disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3570
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060025",
          "DOID:11701",
          "EFO:1001929",
          "GARD:0027574",
          "MEDGEN:883982",
          "MESH:D017098",
          "NANDO:1200347",
          "NANDO:2200720",
          "NCIT:C26964",
          "Orphanet:69127",
          "SCTID:29260007",
          "UMLS:C4049006"
        ],
        "synonyms": [
          "SIgAD",
          "immunoglobulin A deficiency",
          "selective IgA immunodeficiency",
          "IgA deficiencies",
          "deficiencies, IgA",
          "deficiency, IgA",
          "immunoglobulin alpha deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders."
      },
      "child_count": 3,
      "reference_id": "MONDO:0001341"
    },
    {
      "id": 5618,
      "label": "selective IgE deficiency disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3570
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6024",
          "GARD:0023642",
          "ICD9:279.03",
          "MEDGEN:96020",
          "NCIT:C27143",
          "SCTID:234540007",
          "UMLS:C0398694"
        ],
        "synonyms": [
          "selective IgE immunodeficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0003738"
    },
    {
      "id": 18208,
      "label": "selective IgM deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3570
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050222",
          "GARD:0012547",
          "ICD9:279.02",
          "MEDGEN:57820",
          "Orphanet:331235",
          "SCTID:190980000",
          "UMLS:C0154275"
        ],
        "synonyms": [
          "selective IgM deficiency disease",
          "selective immunoglobulin M deficiency",
          "SIgMD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018039"
    },
    {
      "id": 23531,
      "label": "selective IgG immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3570
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025936",
          "MEDGEN:1618515",
          "NANDO:1200346",
          "NCIT:C27142",
          "SCTID:12631000119106",
          "UMLS:C4520847"
        ],
        "synonyms": [
          "selective IgG immunodeficiency",
          "IgG deficiency",
          "IgG subclass deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity."
      },
      "child_count": 1,
      "reference_id": "MONDO:0045045"
    }
  ],
  "roots": [
    {
      "id": 5619,
      "label": "selective immunoglobulin deficiency disease"
    }
  ]
}