{"Name":"Combined immunodeficiency due to OX40 deficiency","DiseaseID__c":"GARD:0017710","id":17710,"encodedName":"combined-immunodeficiency-due-to-ox40-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Combined immunodeficiency due to OX40 deficiency","Xref_IDs__c":"766879006; C3810053; DOID:0111935; MEDGEN:816383; MONDO:0014268; OMIM:615593; ORPHA:431149","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014268","Disease_Description__c":"Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.","GARD_Name__c":"Combined immunodeficiency due to OX40 deficiency","GARD_Synonym__c":"combined immunodeficiency with childhood-onset kaposi sarcoma; combined immunodeficiency with impaired immunity to hhv-8; combined immunodeficiency with impaired immunity to human herpes virus 8; immunodeficiency 16; immunodeficiency type 16; ox40 deficiency","Curated_Disease_Description_Source__c":"MONDO:0014268","Curated_Disease_Description__c":"Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:431149","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014268","ORPHANET_ID__c":"ORPHA:431149","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada por deficiencia de ox40","Spanish_Description_Source__c":"ORPHA:431149","Spanish_Description__c":"La inmunodeficiencia combinada debida a una deficiencia de OX40, es una inmunodeficiencia combinada de células T y B poco frecuente caracterizada por susceptibilidad a desarrollar sarcoma de Kaposi diseminado, cutáneo, sistémico, agresivo y de inicio en la infancia.","Spanish_Disease_Name__c":"inmunodeficiencia combinada por deficiencia de ox40","Spanish_GARD_Synonym__c":"inmunodeficiencia combinada con alteración de la inmunidad al vhh-8; inmunodeficiencia combinada con alteración de la inmunidad al virus del herpes humano 8; inmunodeficiencia combinada con alteración de la inmunidad por el virus del herpes humano 8; inmunodeficiencia combinada con alteración de la inmunidad por hhv-8; inmunodeficiencia combinada con sarcoma de kaposi de inicio en la infancia","Category_Linearization__c":"ORPHA:98004","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.","Curated_Disease_Description_Source__c":"MONDO:0014268","GARD_Synonym__c":"combined immunodeficiency with childhood-onset kaposi sarcoma; combined immunodeficiency with impaired immunity to hhv-8; combined immunodeficiency with impaired immunity to human herpes virus 8; immunodeficiency 16; immunodeficiency type 16; ox40 deficiency","Name":"Combined immunodeficiency due to OX40 deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:431149"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766879006","Source__c":"MONDO:0014268","Xref__c":"766879006"},{"URL__c":"https://www.orpha.net/en/disease/detail/431149","Source__c":"C3810053; MONDO:0014268","Xref__c":"ORPHA:431149"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816383","Source__c":"C3810053","Xref__c":"MEDGEN:816383"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3810053","Source__c":"C3810053","Xref__c":"C3810053"},{"URL__c":"https://www.omim.org/entry/615593","Source__c":"C3810053; MONDO:0014268; ORPHA:431149","Xref__c":"OMIM:615593"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111935","Source__c":"MONDO:0014268","Xref__c":"DOID:0111935"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014268","Source__c":"GARD:0017710","Xref__c":"MONDO:0014268"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNFRSF4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615593","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615593","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100726","HPO_Name__c":"Kaposi's sarcoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615593","Feature__r":{"HPO_Description__c":"A type of hemolytic anemia in which the Coombs test is positive.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004844","HPO_Synonym__c":"Direct Coombs positive","HPO_Name__c":"Coombs-positive hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615593","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615593","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Immunology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["combined immunodeficiency with childhood-onset kaposi sarcoma"," combined immunodeficiency with impaired immunity to hhv-8"," combined immunodeficiency with impaired immunity to human herpes virus 8"," immunodeficiency 16"," immunodeficiency type 16"," ox40 deficiency"]}