{"orpha":656326,"name":"Autosomal recessive combined immunodeficiency due to IL6R deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AR CID due to IL6R deficiency","Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-656326/","orphanet_url":"https://www.orpha.net/en/disease/detail/656326","names":{"fr":{"name":"Déficit immunitaire combiné autosomique récessif par déficit en IL6R","synonyms":["CID autosomique récessive par déficit en IL6R","DIC autosomique récessif par déficit en IL6R","Déficit immunitaire combiné autosomique récessif par déficit en interleukin 6 signal receptor","Immunodéficience combinée autosomique récessive par déficit en IL6R"]},"de":{"name":"Kombinierter Immundefekt, autosomal-rezessiver, durch IL6R-Mangel","synonyms":["Autosomal-rezessiver kombinierter Immundefekt durch IL6-Rezeptorproteinmangel","CID durch IL6R-Defizienz"]},"es":{"name":"Inmunodeficiencia combinada autosómica recesiva por deficiencia de IL6R","synonyms":["IDC AR por deficiencia de IL6R","Inmunodeficiencia combinada autosómica recesiva por deficiencia de la proteína receptora de IL6"]},"it":{"name":"Immunodeficienza combinata autosomica recessiva da deficit di IL6ST","synonyms":["CID AR da deficit di IL6R","Immunodeficienza combinata autosomica recessiva da deficit della proteina del recettore di IL6"]},"nl":{"name":"Autosomaal recessieve gecombineerde immuundeficiëntie door IL6R-deficiëntie","synonyms":["AR CID door IL6R-deficiëntie","Autosomaal recessieve gecombineerde immuundeficiëntie door deficiëntie van IL6-receptorproteïne"]},"pt":{"name":"Imunodeficiência combinada autossómica recessiva devida a deficiência de IL6R","synonyms":["AR CID devido a deficiência de IL6R","Imunodeficiência combinada autossómica recessiva devida a deficiência do receptor proteico IL6"]},"pl":{"name":"Autosomalny recesywny złożony niedobór odporności spowodowany niedoborem IL6ST","synonyms":["AR CID due to IL6R deficiency","Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency"]},"cs":{"name":"Autozomálně recesivní kombinovaná imunodeficience způsobená deficitem IL6R","synonyms":["AR CID due to IL6R deficiency","Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency"]},"uk":{"name":"Аутосомно-рецесивний комбінований імунодефіцит, зумовлений дефіцитом IL6R","synonyms":["АР КІД внаслідок дефіциту IL6R","Аутосомно-рецесивний комбінований імунодефіцит, зумовлений дефіцитом білка рецептора IL6"]}},"xrefs":[{"source":"OMIM","code":"618944","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958118","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958118","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925112","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":331223,"name":"Hyper-IgE syndrome","classifications":[156,195]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]}],"children":[],"genes":[{"symbol":"IL6R","name":"interleukin 6 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31235509[PMID]","hgnc":"6019","ensembl":"ENSG00000160712","omim":"147880","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}