{ "id": 18070, "label": "T-B- severe combined immunodeficiency", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0017855", "properties": { "xrefs": [ "GARD:0021406", "MEDGEN:1842252", "Orphanet:317419", "UMLS:C5679893" ], "synonyms": [ "T-B- SCID" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." }, "isLeaf": false, "isRoot": false, "child_count": 16, "parents": [ { "id": 16628, "label": "severe combined immunodeficiency", "isLeaf": false, "isRoot": false, "parents": [ 16075 ], "type_id": 0, "properties": { "xrefs": [ "DOID:627", "GARD:0007628", "HP:0004430", "MEDGEN:88328", "MESH:D016511", "MedDRA:10069566", "NCIT:C3472", "NORD:1706", "Orphanet:183660", "SCTID:31323000", "UMLS:C0085110", "icd11.foundation:963193284" ], "synonyms": [ "SCID", "severe combined immunodeficiency", "severe combined immunodeficiency (disease)", "severe combined immunodeficiency disease" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells." }, "child_count": 11, "reference_id": "MONDO:0015974" } ], "children": [ { "id": 8481, "label": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18070, 19100, 22249 ], "type_id": 0, "properties": { "xrefs": [ "CSP:1560-6660", "DOID:5810", "GARD:0005748", "ICD9:277.2", "MEDGEN:95935", "MESH:C531816", "MedDRA:10066367", "NANDO:1200323", "NANDO:2200696", "NCIT:C3962", "OMIM:102700", "Orphanet:277", "SCTID:44940001", "UMLS:C0392607" ], "synonyms": [ "ADA deficiency", "ADA-SCID", "SCID due to ADA deficiency", "SCID due to ADA deficiency, early-onset", "SCID due to adenosine deaminase deficiency", "adenosine deaminase deficiency", "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism", "adenosine deaminase deficient severe combined immunodeficiency", "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism", "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency", "SCID due to ADA deficiency, delayed onset", "SCID due to ADA deficiency, late-onset", "adenosine deaminase deficiency, partial", "partial ADA deficiency", "severe combined immunodeficiency due to ADA deficiency", "severe combined immunodeficiency due to adenosine deaminase deficiency" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." }, "child_count": 0, "reference_id": "MONDO:0007064" }, { "id": 9977, "label": "short-limb skeletal dysplasia with severe combined immunodeficiency", "isLeaf": true, "isRoot": false, "parents": [ 18070 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002988", "MEDGEN:348040", "MESH:C565984", "OMIM:200900", "Orphanet:935", "UMLS:C1860168", "icd11.foundation:469016488" ], "synonyms": [ "achondroplasia-SCID syndrome", "achondroplasia-Swiss type agammaglobulinemia syndrome", "achondroplasia-severe combined immunodeficiency syndrome", "immunodeficiency-short limb dwarfism syndrome", "short limb skeletal dysplasia with SCID", "short-limb skeletal dysplasia with severe combined immunodeficiency", "SLSD with SCID", "Slsd with SCID", "achondroplasia and Swiss type agammaglobulinemia", "achondroplasia and Swiss-type agammaglobulinemia", "achondroplasia and severe combined immunodeficiency", "achondroplasia so-called and severe combined immunodeficiency", "achondroplasia, so-called, and severe combined immunodeficiency", "agammaglobulinemia and achondroplasia" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." }, "child_count": 0, "reference_id": "MONDO:0008704" }, { "id": 10544, "label": "combined immunodeficiency with skin granulomas", "isLeaf": true, "isRoot": false, "parents": [ 18070, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112253", "GARD:0013587", "MEDGEN:435945", "MESH:C567115", "OMIM:233650", "Orphanet:157949", "UMLS:C2673536" ], "synonyms": [ "CID due to RAG 1/2 deficiency", "combined immunodeficiency due to RAG 1/2 deficiency", "CCHIDG", "combined cellular and humoral immune defects with granulomas" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009306" }, { "id": 11174, "label": "reticular dysgenesis", "isLeaf": false, "isRoot": false, "parents": [ 18070, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060020", "GARD:0008625", "MEDGEN:124417", "MESH:C538361", "NANDO:1200322", "NANDO:2200695", "NCIT:C27070", "OMIM:267500", "Orphanet:33355", "SCTID:111584000", "UMLS:C0272167" ], "synonyms": [ "AK2 deficiency", "De Vaal disease", "SCID with leukopenia", "congenital aleukocytosis", "generalised haematopoietic hypoplasia", "generalized hematopoietic hypoplasia", "reticular dysgenesis", "severe combined immunodeficiency with leukopenia", "DeVaal disease", "RD", "congenital Aleukia", "haematopoietic hypoplasia, generalised", "hematopoietic hypoplasia, generalized", "reticular Dysgenesia" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." }, "child_count": 2, "reference_id": "MONDO:0009973" }, { "id": 12212, "label": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive", "isLeaf": true, "isRoot": false, "parents": [ 18070, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090013", "GARD:0010339", "MEDGEN:321935", "MESH:C563311", "OMIM:601457", "Orphanet:331206", "UMLS:C1832322" ], "synonyms": [ "SCID due to complete RAG1/2 deficiency", "severe combined immunodeficiency, B cell-negative", "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive", "SCID, AR, T-cell negative, B-cell negative, NK cell-positive", "SCID, T cell-negative, B cell-negative, NK cell-positive", "severe combined immunodeficiency due to complete RAG1/2 deficiency", "severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia." }, "child_count": 0, "reference_id": "MONDO:0011086" }, { "id": 12345, "label": "severe combined immunodeficiency due to DCLRE1C deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18070, 20416, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060006", "DOID:0090012", "GARD:0009987", "MEDGEN:355454", "OMIM:602450", "Orphanet:275", "SCTID:715982006", "UMLS:C1865370" ], "synonyms": [ "DCLRE1C severe combined immunodeficiency (disease)", "SCID due to ARTEMIS deficiency", "SCID due to DCLRE1C deficiency", "SCID due to artemis deficiency", "SCID, Athabascan type", "SCID, Athabaskan type", "severe combined immunodeficiency (disease) caused by mutation in DCLRE1C", "severe combined immunodeficiency due to ARTEMIS deficiency", "severe combined immunodeficiency due to DCLRE1C deficiency", "severe combined immunodeficiency due to artemis deficiency", "Athabaskan Severe combined immunodeficiency", "RS-SCID", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionising radiation", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation", "artemis deficiency", "severe combined immunodeficiency with sensitivity to ionising radiation", "severe combined immunodeficiency with sensitivity to ionizing radiation", "severe combined immunodeficiency, Athabascan type", "severe combined immunodeficiency, Athabaskan type", "severe combined immunodeficiency, Athabaskan-type", "severe combined immunodeficiency, partial" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." }, "child_count": 0, "reference_id": "MONDO:0011225" }, { "id": 12448, "label": "Omenn syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18070, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060010", "GARD:0008198", "MEDGEN:398130", "MedDRA:10069097", "NANDO:1200324", "NANDO:2200697", "NCIT:C61240", "OMIM:603554", "Orphanet:39041", "SCTID:722067005", "UMLS:C2700553" ], "synonyms": [ "Omenn syndrome", "combined immunodeficiency with hypereosinophilia", "reticuloendotheliosis familial with eosinophilia", "reticuloendotheliosis, familial, with eosinophilia", "severe combined immunodeficiency with hypereosinophilia" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID)." }, "child_count": 0, "reference_id": "MONDO:0011338" }, { "id": 12776, "label": "DNA ligase IV deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18070, 20383 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060021", "GARD:0015000", "MEDGEN:339855", "MESH:C564694", "NCIT:C122657", "OMIM:606593", "Orphanet:99812", "SCTID:724177005", "UMLS:C1847827" ], "synonyms": [ "DNA ligase IV deficiency", "LIG4 syndrome", "ligase 4 syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." }, "child_count": 0, "reference_id": "MONDO:0011686" }, { "id": 13059, "label": "neutrophil immunodeficiency syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16630, 18070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112064", "GARD:0017087", "MEDGEN:374920", "MESH:C564275", "OMIM:608203", "Orphanet:183707", "SCTID:723443003", "UMLS:C1842398", "icd11.foundation:1459690929" ], "synonyms": [ "immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis", "neutrophil immunodeficiency syndrome" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." }, "child_count": 0, "reference_id": "MONDO:0011988" }, { "id": 13411, "label": "combined immunodeficiency due to partial RAG1 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18070 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013712", "MEDGEN:372161", "MESH:C563691", "OMIM:609889", "Orphanet:231154", "SCTID:725290000", "UMLS:C1835931" ], "synonyms": [ "CID due to partial RAG1 deficiency", "CID with expansion of gamma delta T cells", "combined immunodeficiency with expansion of gamma delta T cells", "alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." }, "child_count": 0, "reference_id": "MONDO:0012359" }, { "id": 13691, "label": "Cernunnos-XLF deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18070, 22249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061090", "GARD:0017045", "MEDGEN:369590", "MESH:C566970", "OMIM:611291", "Orphanet:169079", "SCTID:720853005", "UMLS:C1969799" ], "synonyms": [ "Cernunnos XLFD", "Cernunnos deficiency", "Cernunnos-XLF deficiency", "NHEJ1 deficiency", "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome", "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome", "Nhej1 syndrome", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionising radiation due to Nhej1 deficiency", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionising radiation", "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation", "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionising radiation", "severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation", "severe combined immunodeficiency with sensitivity to ionising radiation due to Nhej1 deficiency", "severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." }, "child_count": 0, "reference_id": "MONDO:0012650" }, { "id": 15336, "label": "severe combined immunodeficiency due to LCK deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111937", "GARD:0017288", "MEDGEN:862670", "OMIM:615758", "Orphanet:280142", "UMLS:C4014233", "icd11.foundation:999642330" ], "synonyms": [ "SCID due to LCK deficiency", "SCID due to lymphocyte-specific protein tyrosine kinase deficiency", "immunodeficiency type 22", "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency", "IMD22", "immunodeficiency 22" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014334" }, { "id": 15425, "label": "severe combined immunodeficiency due to DNA-PKcs deficiency", "isLeaf": true, "isRoot": false, "parents": [ 18070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111961", "GARD:0017441", "MEDGEN:863270", "OMIM:615966", "Orphanet:317425", "SCTID:716871006", "UMLS:C4014833" ], "synonyms": [ "SCID due to DNA-PKcs deficiency", "IMD26", "immunodeficiency 26 with or without neurologic abnormalities" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ], "definition": "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." }, "child_count": 0, "reference_id": "MONDO:0014423" }, { "id": 22680, "label": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia", "isLeaf": true, "isRoot": false, "parents": [ 18070, 26261 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112061", "GARD:0025808", "MEDGEN:1740566", "OMIM:618986", "UMLS:C5436549" ], "synonyms": [ "IMD73B", "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033554" }, { "id": 22681, "label": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia", "isLeaf": true, "isRoot": false, "parents": [ 18070, 26261 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112062", "GARD:0018300", "MEDGEN:1734177", "OMIM:618987", "UMLS:C5436550" ], "synonyms": [ "IMD73C", "IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033555" }, { "id": 26167, "label": "reticular dysgenesis-like severe combined immunodeficiency", "isLeaf": true, "isRoot": false, "parents": [ 18070 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027422", "MEDGEN:1876613", "Orphanet:688543", "UMLS:C6012356" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975911" } ], "roots": [ { "id": 16628, "label": "severe combined immunodeficiency" } ] }