{
    "disease_id": "DOID:0110115",
    "recommended_name": {
        "id": "DOID:0110115",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110115",
        "name": "autoimmune lymphoproliferative syndrome type 2A",
        "description": "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0110115",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110115",
            "name": "ALPS2A",
            "description": ""
        },
        {
            "id": "DOID:0110115",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110115",
            "name": "autoimmune lymphoproliferative syndrome type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome type 2A",
            "description": "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma."
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "ALPS-CASP10",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "ALPS2A",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "CASP10 autoimmune lymphoproliferative syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome caused by mutation in CASP10",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome, type II",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome-CASP10 variant",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "type 2 ALPS",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "type 2 autoimmune lymphoproliferative syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0011383",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011383",
            "name": "autoimmune lymphoproliferative syndrome, type IIA",
            "description": ""
        },
        {
            "id": "MIM:603909",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603909",
            "name": "Autoimmune lymphoproliferative syndrome 2A",
            "description": "Autoimmune lymphoproliferative syndrome 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110115"
    ],
    "unlinked_id_list": []
}