{"orpha":696925,"name":"Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult-onset CVID phenotype due to BAFF-receptor deficiency","Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696925/","orphanet_url":"https://www.orpha.net/en/disease/detail/696925","names":{"fr":{"name":"Phénotype de déficit immunitaire commun variable de l'adulte par déficit en BAFFR","synonyms":["Phénotype d'immunodéficience commune variable de l'adulte par déficit en BAFFR","Phénotype de CVID de l'adulte par déficit en BAFFR","Phénotype de DICV de l'adulte par déficit en BAFFR","Phénotype de déficit immunitaire commun variable de l'adulte par déficit en protéine B-cell activating factor receptor"]},"de":{"name":"Variables Immundefekt-Syndrom durch BAFF-Rezeptor-Mangel mit Beginn im Erwachsenenalter","synonyms":["Adultes CVID durch BAFF-Rezeptor-Defizienz"]},"es":{"name":"Inmunodeficiencia común variable por deficiencia del receptor BAFF de inicio en el adulto","synonyms":["Fenotipo de IDCV de inicio en la edad adulta por deficiencia del receptor BAFF","Fenotipo de inmunodeficiencia común variable de inicio en la edad adulta por deficiencia del receptor del factor activador de células B"]},"it":{"name":"Immunodeficienza comune variabile ad esordio nell'età adulta da deficit del recettore BAFF","synonyms":["CVID ad esordio nell'età adulta da deficit del recettore BAFF","Fenotipo dell’immunodeficienza comune variabile ad esordio nell'età adulta da deficit del recettore del fattore di attivazione delle cellule B"]},"nl":{"name":"Fenotype van gewone variabele immuundeficiëntie door deficiëntie van BAFF-receptor met aanvang in de volwassenheid","synonyms":["CVID-fenotype door deficiëntie van BAFF-receptor met aanvang in de volwassenheid","Fenotype van gewone variabele immuundeficiëntie door deficiëntie van receptor van B-cel-activerende factor met aanvang in de volwassenheid"]},"pt":{"name":"Common variable immunodeficiency due to BAFF-receptor deficiency"},"pl":{"name":"Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency","synonyms":["Adult-onset CVID phenotype due to BAFF-receptor deficiency","Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency"]},"cs":{"name":"Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency","synonyms":["Adult-onset CVID phenotype due to BAFF-receptor deficiency","Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency"]}},"xrefs":[{"source":"OMIM","code":"613494","qualifier":"E","icd_relation":null,"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":"TNFRSF13C","name":"TNF receptor superfamily member 13C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19666484[PMID]","hgnc":"17755","ensembl":"ENSG00000159958","omim":"606269","loci":["22q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}