{"Name":"TCR-alpha-beta-positive T-cell deficiency","DiseaseID__c":"GARD:0017646","id":17646,"encodedName":"tcr-alpha-beta-positive-t-cell-deficiency","IsDeleted":false,"Disease_Name_Full__c":"TCR-alpha-beta-positive T-cell deficiency","Xref_IDs__c":"C3809332; DOID:0111977; MEDGEN:815662; MONDO:0014160; OMIM:615387; ORPHA:397959","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014160","Disease_Description__c":"A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.","GARD_Name__c":"TCR-alpha-beta-positive T-cell deficiency","GARD_Synonym__c":"imd7; immunodeficiency 7; immunodeficiency 7, tcr-alpha/beta deficient; t-cell receptor alpha/beta deficiency; tcr-alpha-beta+ t-cell deficiency; tcr-alpha/beta deficiency","Curated_Disease_Description_Source__c":"ORPHA:397959","Curated_Disease_Description__c":"TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:397959","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014160","ORPHANET_ID__c":"ORPHA:397959","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de células t tcr-alfa-beta positivas","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de células t tcr-alfa-beta positivas","Spanish_GARD_Synonym__c":"deficiencia en células t tcr-alfa-beta+","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":"TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.","Curated_Disease_Description_Source__c":"ORPHA:397959","GARD_Synonym__c":"imd7; immunodeficiency 7; immunodeficiency 7, tcr-alpha/beta deficient; t-cell receptor alpha/beta deficiency; tcr-alpha-beta+ t-cell deficiency; tcr-alpha/beta deficiency","Name":"TCR-alpha-beta-positive T-cell 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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"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:397959"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3809332","Source__c":"C3809332","Xref__c":"C3809332"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=815662","Source__c":"C3809332","Xref__c":"MEDGEN:815662"},{"URL__c":"https://www.omim.org/entry/615387","Source__c":"C3809332; MONDO:0014160; ORPHA:397959","Xref__c":"OMIM:615387"},{"URL__c":"https://www.orpha.net/en/disease/detail/397959","Source__c":"C3809332; MONDO:0014160","Xref__c":"ORPHA:397959"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111977","Source__c":"MONDO:0014160","Xref__c":"DOID:0111977"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014160","Source__c":"GARD:0017646","Xref__c":"MONDO:0014160"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRAC","Gene_Type__c":"other","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An autoimmune form of hemolytic anemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001890","HPO_Synonym__c":"Autoimmune haemolytic anemia; Hemolytic anemia, autoimmune","HPO_Name__c":"Autoimmune hemolytic anemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032170","HPO_Name__c":"Severe varicella zoster infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009098","HPO_Synonym__c":"Chronic oral thrush","HPO_Name__c":"Chronic oral candidiasis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Persistent presence of Epstein-Barr virus in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020072","HPO_Name__c":"Persistent EBV viremia","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The occurrence of an immune reaction against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002960","HPO_Synonym__c":"Autoimmune condition; Autoimmune disease; Autoimmune disorder; Autoimmunity","HPO_Name__c":"Autoimmunity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001045","HPO_Synonym__c":"Blotchy loss of skin color","HPO_Name__c":"Vitiligo","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Frequent (30-79%)","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:615387","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000403","HPO_Synonym__c":"Frequent otitis media; Multiple episodes of otitis media; Otitis media, recurrent; Recurrent episodes of otitis media; Recurrent middle ear infection; Susceptibility to otitis media","HPO_Name__c":"Recurrent otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002232","HPO_Synonym__c":"Alopecia areata; Patchy baldness","HPO_Name__c":"Patchy alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615387","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe increase in circulating eosinophils, usually characterized as more than 1500 eosinophils per microlitre.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032061","HPO_Synonym__c":"Hypereosinophilia","HPO_Name__c":"Severely increased total eosinophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"],"Specialist":["Genetics","Immunology","Gastroenterology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["imd7"," immunodeficiency 7"," immunodeficiency 7, tcr-alpha/beta deficient"," t-cell receptor alpha/beta deficiency"," tcr-alpha-beta+ t-cell deficiency"," tcr-alpha/beta deficiency"]}