{"orpha":696881,"name":"Common variable immunodeficiency phenotype due to CD19/CD81 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CD19 deficiency","CVID phenotype due to CD19/CD81 deficiency","Common variable immunodeficiency phenotype due to cluster of differentiation 19/cluster or differentiation 81 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696881/","orphanet_url":"https://www.orpha.net/en/disease/detail/696881","names":{"fr":{"name":"Phénotype de déficit immunitaire commun variable par déficit en CD19/CD81","synonyms":["Déficit en CD19","Phénotype d'immunodéficience commune variable par déficit en CD19/CD81","Phénotype de CVID par déficit en CD19/CD81","Phénotype de DICV par déficit en CD19/CD81","Phénotype de déficit immunitaire commun variable par déficit en cluster of differentiation 19/cluster of differentiation 81"]},"de":{"name":"Variables Immundefekt-Syndrom durch CD19/CD81-Mangel","synonyms":["CD19-Defizienz","CVID durch CD19/CD81-Defizienz"]},"es":{"name":"Fenotipo de inmunodeficiencia común variable por deficiencia de CD19/CD81","synonyms":["Deficiencia de CD19","Fenotipo de IDCV por deficiencia de CD19/CD81","Fenotipo de inmunodeficiencia común variable por deficiencia del grupo de diferenciación 19/81"]},"it":{"name":"Fenotipo dell’immunodeficienza comune variabile da deficit di CD19/CD81","synonyms":["Deficit di CD19","Fenotipo della CVID da deficit di CD19/CD81","Fenotipo dell’immunodeficienza comune variabile da deficit del cluster di differenziazione 19/cluster di differenziazione 81"]},"nl":{"name":"Fenotype van gewone variabele immuundeficiëntie door CD19/CD81-deficiëntie","synonyms":["CD19-deficiëntie","CVID-fenotype door CD19/CD81-deficiëntie","Fenotype van gewone variabele immuundeficiëntie door deficiëntie van cluster van differentiatie 19/cluster van differentiatie 81"]},"pt":{"name":"Common variable immunodeficiency phenotype due to CD19/CD81 deficiency"},"pl":{"name":"Common variable immunodeficiency phenotype due to CD19/CD81 deficiency","synonyms":["CD19 deficiency","CVID phenotype due to CD19/CD81 deficiency","Common variable immunodeficiency phenotype due to cluster of differentiation 19/cluster or differentiation 81 deficiency"]},"cs":{"name":"Common variable immunodeficiency phenotype due to CD19/CD81 deficiency","synonyms":["CD19 deficiency","CVID phenotype due to CD19/CD81 deficiency","Common variable immunodeficiency phenotype due to cluster of differentiation 19/cluster or differentiation 81 deficiency"]}},"xrefs":[{"source":"OMIM","code":"613493","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613496","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D83.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":696870,"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","classifications":[156,195]}],"children":[],"genes":[{"symbol":"CD19","name":"CD19 molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21330302[PMID]","hgnc":"1633","ensembl":"ENSG00000177455","omim":"107265","loci":["16p11.2"]},{"symbol":"CD81","name":"CD81 molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21970952[PMID]","hgnc":"1701","ensembl":"ENSG00000110651","omim":"186845","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}