{"orpha":726442,"name":"Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID with hypo/agammaglobulinemia and opportunistic infections","CID due to IRF4 multimorphic variant","Multimorphic IRF4 CID"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726442/","orphanet_url":"https://www.orpha.net/en/disease/detail/726442","names":{"fr":{"name":"Déficit immunitaire combiné avec hypo/agammaglobulinémie et infections opportunistes","synonyms":["DIC avec hypo/agammaglobulinémie et infections opportunistes","CID avec hypo/agammaglobulinémie et infections opportunistes","CID due à un variant IRF4 mutlimorphique","DIC dû à un variant IRF4 mutlimorphique"]},"de":{"name":"Kombinierter Immundefekt mit Hypo-/Agammaglobulinämie und opportunistischen Infektionen","synonyms":["CID durch IRF4-Defizienz","Kombinierter Immundefekt durch multimorphe IRF4-Variante","CID mit Hypo-/Agammaglobulinämie und opportunistischen Infektionen"]},"es":{"name":"Inmunodeficiencia combinada con hipo/agammaglobulinemia e infecciones oportunistas","synonyms":["CID por una variante multimórfica de IRF4","IDC por una variante multimórfica de IRF4","CID con hipo/agammaglobulinemia e infecciones oportunistas","IDC con hipo/agammaglobulinemia e infecciones oportunistas"]},"it":{"name":"Immunodeficienza combinata con ipo/agammaglobulinemia e infezioni opportunistiche","synonyms":["CID IRF4 polimorfa","CID da mutazione polimorfa di IRF4","CID con ipo/agammaglobulinemia e infezioni opportunistiche"]},"nl":{"name":"Gecombineerde immuundeficiëntie met hypo/agammaglobulinemie en opportunistische infecties","synonyms":["CID door multimorf IRF4","CID door multimorfe variant van IRF4","CID met hypo/agammaglobulinemie en opportunistische infecties"]},"pt":{"name":"Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections"},"pl":{"name":"Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections","synonyms":["CID with hypo/agammaglobulinemia and opportunistic infections","CID due to IRF4 multimorphic variant","Multimorphic IRF4 CID"]},"cs":{"name":"Combined immunodeficiency with hypo/agammaglobulinemia and opportunistic infections","synonyms":["CID with hypo/agammaglobulinemia and opportunistic infections","CID due to IRF4 multimorphic variant","Multimorphic IRF4 CID"]}},"xrefs":[{"source":"OMIM","code":"621097","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":695164,"name":"Combined immunodeficiency with low B cells and hypogammaglobulinemia","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"IRF4","name":"interferon regulatory factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36662884[PMID]","hgnc":"6119","ensembl":"ENSG00000137265","omim":"601900","loci":["6p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}