{"Name":"BENTA disease","DiseaseID__c":"GARD:0013339","id":13339,"encodedName":"benta-disease","IsDeleted":false,"Disease_Name_Full__c":"BENTA disease","Xref_IDs__c":"1179300002; C176791; C4551967; MEDGEN:1641265; MONDO:0014645; OMIM:616452; ORPHA:464336","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014645","Disease_Description__c":"BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.","GARD_Name__c":"BENTA disease","GARD_Synonym__c":"b-cell expansion with nf-kb and t-cell anergy disease; b-cell expansion with nfkb and t-cell anergy; b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy disease; benta (b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy) disease","Curated_Disease_Description_Source__c":"GARD:0013339","Curated_Disease_Description__c":"BENTA disease (B cell Expansion with NF-kappaB and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/&mu;l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by genetic changes in the CARD11 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:464336","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014645","ORPHANET_ID__c":"ORPHA:464336","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad benta","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad benta","Spanish_GARD_Synonym__c":"enfermedad de expansión de células b con nt-kb y anergia de células t","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":"BENTA disease (B cell Expansion with NF-kappaB and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/&mu;l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by genetic changes in the CARD11 gene.","Curated_Disease_Description_Source__c":"GARD:0013339","GARD_Synonym__c":"b-cell expansion with nf-kb and t-cell anergy disease; b-cell expansion with nfkb and t-cell anergy; b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy disease; benta (b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy) disease","Name":"BENTA disease","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:464336"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013339","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/616452","Source__c":"C4551967; MONDO:0014645; ORPHA:464336","Xref__c":"OMIM:616452"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551967","Source__c":"C4551967","Xref__c":"C4551967"},{"URL__c":"https://www.orpha.net/en/disease/detail/464336","Source__c":"C4551967; MONDO:0014645; ORPHA:464336","Xref__c":"ORPHA:464336"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1641265","Source__c":"C4551967","Xref__c":"MEDGEN:1641265"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014645","Source__c":"GARD:0013339","Xref__c":"MONDO:0014645"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1179300002","Source__c":"C4551967","Xref__c":"1179300002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176791","Source__c":"C4551967","Xref__c":"C176791"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CARD11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/card11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616452","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased levels of immunoglobulin A (IgA).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002720","HPO_Synonym__c":"Decreased circulating IgA level; Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels","HPO_Name__c":"Decreased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616452","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute number of B cells in the blood, per microlitre is above the upper limit of normal of the reference range for the appropriate sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005404","HPO_Synonym__c":"B cell lymphocytosis; Increase in B cell count; Increase in B cell number; Increased number of B cells","HPO_Name__c":"Increased total B cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616452","HPO_Frequency__c":"Very frequent (80-99%)","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:616452","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin M (IgM) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002850","HPO_Synonym__c":"Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels","HPO_Name__c":"Decreased circulating total IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616452","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410299","HPO_Name__c":"Decreased specific antibody response to polysaccharide vaccine","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616452","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal bone marrow finding characterized by many poorly circumscribed and occasionally confluent lymphoid nodules. The nodules contain small and uniform lymphocytes with rounded nuclei, clumped chromatin, and without prominent nucleoli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034839","HPO_Name__c":"Lymphoid hyperplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616452","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["b-cell expansion with nf-kb and t-cell anergy disease"," b-cell expansion with nfkb and t-cell anergy"," b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy disease"," benta (b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy) disease"]}