{"Name":"T-B+ severe combined immunodeficiency due to CD45 deficiency","DiseaseID__c":"GARD:0017052","id":17052,"encodedName":"t-b-severe-combined-immunodeficiency-due-to-cd45-deficiency","IsDeleted":false,"Disease_Name_Full__c":"T-B+ severe combined immunodeficiency due to CD45 deficiency","Xref_IDs__c":"C5679579; DOID:0060014; MEDGEN:1842877; MONDO:0015702; ORPHA:169157","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:169157","Disease_Description__c":"A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.","GARD_Name__c":"T-B+ severe combined immunodeficiency due to CD45 deficiency","GARD_Synonym__c":"cd45 deficiency; t-b+ scid due to cd45 deficiency","Curated_Disease_Description_Source__c":"ORPHA:169157","Curated_Disease_Description__c":"A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:169157","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015702","ORPHANET_ID__c":"ORPHA:169157","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada grave t-b+ por deficiencia de cd45","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia combinada grave t-b+ por deficiencia de cd45","Spanish_GARD_Synonym__c":"idcg t-b+ por deficiencia de cd45; scid t-b+ por deficiencia de cd45","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":"A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.","Curated_Disease_Description_Source__c":"ORPHA:169157","GARD_Synonym__c":"cd45 deficiency; t-b+ scid due to cd45 deficiency","Name":"T-B+ severe combined immunodeficiency due to CD45 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":"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":"Infancy","Provided_By__c":"ORPHA:169157"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5679579","Source__c":"C5679579","Xref__c":"C5679579"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1842877","Source__c":"C5679579","Xref__c":"MEDGEN:1842877"},{"URL__c":"https://www.orpha.net/en/disease/detail/169157","Source__c":"C5679579; MONDO:0015702; ORPHA:169157","Xref__c":"ORPHA:169157"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060014","Source__c":"MONDO:0015702","Xref__c":"DOID:0060014"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015702","Source__c":"GARD:0017052","Xref__c":"MONDO:0015702"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PTPRC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["cd45 deficiency"," t-b+ scid due to cd45 deficiency"]}