{"orpha":696904,"name":"Common variable immunodeficiency phenotype due to IRF2BP2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CVID phenotype due to IRF2BP2 deficiency","Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696904/","orphanet_url":"https://www.orpha.net/en/disease/detail/696904","names":{"fr":{"name":"Phénotype de déficit immunitaire commun variable par déficit en IRF2BP2","synonyms":["Phenotype de déficit immunitaire commun variable par déficit en protéine IFN regulatory factor-2 binding protein 2","Phénotype d'immunodéficience commune variable par déficit en IRF2BP2","Phénotype de CVID par déficit en IRF2BP2","Phénotype de DICV par déficit en IRF2BP2"]},"de":{"name":"Variables Immundefekt-Syndrom durch IRF2BP2-Mangel","synonyms":["CVID durch IRF2BP2-Defizienz"]},"es":{"name":"Fenotipo de inmunodeficiencia común variable por deficiencia de IRF2BP2","synonyms":["Fenotipo de IDCV por deficiencia de IRF2BP2","Fenotipo de inmunodeficiencia común variable por deficiencia de la proteína 2 de unión al factor regulador del IFN-2"]},"it":{"name":"Fenotipo dell’immunodeficienza comune variabile da deficit di IRF2BP2","synonyms":["Fenotipo della CVID da deficit di IRF2BP2","Fenotipo dell’immunodeficienza comune variabile da deficit della proteina 2 legante il fattore 2 di regolazione dell'IFN"]},"nl":{"name":"Fenotype van gewone variabele immuundeficiëntie door IRF2BP2-deficiëntie","synonyms":["CVID-fenotype door IRF2BP2-deficiëntie","Fenotype van gewone variabele immuundeficiëntie door deficiëntie van IFN regulatorische factor-2 bindingproteïne 2"]},"pt":{"name":"Common variable immunodeficiency phenotype due to IRF2BP2 deficiency"},"pl":{"name":"Common variable immunodeficiency phenotype due to IRF2BP2 deficiency","synonyms":["CVID phenotype due to IRF2BP2 deficiency","Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency"]},"cs":{"name":"Common variable immunodeficiency phenotype due to IRF2BP2 deficiency","synonyms":["CVID phenotype due to IRF2BP2 deficiency","Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency"]}},"xrefs":[{"source":"OMIM","code":"617765","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]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"IRF2BP2","name":"interferon regulatory factor 2 binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"27016798[PMID]","hgnc":"21729","ensembl":"ENSG00000168264","omim":"615332","loci":["1q42.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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}