{"orpha":656300,"name":"Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AR CID due to partial GP130 deficiency","AR CID due to partial IL6ST deficiency","Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency","Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-656300/","orphanet_url":"https://www.orpha.net/en/disease/detail/656300","names":{"fr":{"name":"Déficit immunitaire combiné autosomique récessif par déficit partiel en IL6ST","synonyms":["CID autosomique récessive par déficit partiel en GP130","CID autosomique récessive par déficit partiel en IL6ST","DIC autosomique récessif par déficit partiel en GP130","DIC autosomique récessif par déficit partiel en IL6ST","Déficit immunitaire combiné autosomique récessif par déficit partiel en glycoprotéine 130","Déficit immunitaire combiné autosomique récessif par déficit partiel en interleukin 6 signal transducer","Immunodéficience combinée autosomique récessive par déficit partiel en GP130","Immunodéficience combinée autosomique récessive par déficit partiel en IL6ST"]},"de":{"name":"Kombinierter Immundefekt, autosomal-rezessiver, durch partiellen IL6ST-Mangel","synonyms":["AR-CID durch partiellen IL6ST-Mangel","Autosomal-rezessiver kombinierter Immundefekt aufgrund eines partiellen Mangels an Glykoprotein 130","Kombinierter Immundefekt durch partiellen IL6ST-Defekt"]},"es":{"name":"Inmunodeficiencia combinada autosómica recesiva por deficiencia parcial de IL6ST","synonyms":["IDC AR por deficiencia parcial de GP130","IDC AR por deficiencia parcial de IL6ST","Inmunodeficiencia combinada autosómica recesiva por deficiencia parcial de la glucoproteína 130","Inmunodeficiencia combinada autosómica recesiva por deficiencia parcial de la proteína traductora de señal de la IL6"]},"it":{"name":"Immunodeficienza combinata autosomica recessiva da deficit parziale di IL6ST","synonyms":["CID AR da deficit parziale di GP130","CID AR da deficit parziale di IL6ST","Immunodeficienza combinata autosomica recessiva da deficit parziale della proteina che trasduce il segnale di IL6","Immunodeficienza combinata autosomica recessiva da deficit parziale di glicoproteina 130"]},"nl":{"name":"Autosomaal recessieve gecombineerde immuundeficiëntie door partiële IL6ST-deficiëntie","synonyms":["AR CID door partiële GP130-deficiëntie","AR CID door partiële IL6ST-deficiëntie","Autosomaal recessieve gecombineerde immuundeficiëntie door partiële deficiëntie van glycoproteïne 130","Autosomaal recessieve gecombineerde immuundeficiëntie door partiële deficiëntie van signaaltransductieproteïne interleukine 6"]},"pt":{"name":"Imunodeficiência combinada autossómica recessiva devida a deficiência parcial de IL6ST","synonyms":["AR CID devido a deficiência parcial de GP130","AR CID devido a deficiência parcial de IL6ST","Imunodeficiência combinada autossómica recessiva devida a deficiência parcial de glicoproteina 130","Imunodeficiência combinada autossómica recessiva devida a deficiência parcial de proteína transdutora de sinal IL6"]},"pl":{"name":"Autosomalny recesywny złożony niedobór odporności spowodowany częściowym niedoborem IL6ST","synonyms":["AR CID due to partial GP130 deficiency","AR CID due to partial IL6ST deficiency","Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency","Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency"]},"cs":{"name":"Autozomálně recesivní kombinovaná imunodeficience způsobená částečným deficitem IL6ST","synonyms":["AR CID due to partial GP130 deficiency","AR CID due to partial IL6ST deficiency","Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency","Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency"]},"uk":{"name":"Аутосомно-рецесивний комбінований імунодефіцит, зумовлений частковою недостатністю IL6ST","synonyms":["АР КІД через частковий дефіцит GP130","АР КІД внаслідок часткового дефіциту IL6ST","Аутосомно-рецесивний комбінований імунодефіцит, зумовлений частковою недостатністю глікопротеїну 130","Аутосомно-рецесивний комбінований імунодефіцит, зумовлений частковою недостатністю білка трансдуктора сигналу IL6"]}},"xrefs":[{"source":"OMIM","code":"618523","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958116","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958116","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925106","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":"IL6ST","name":"interleukin 6 cytokine family signal transducer","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34044328[PMID]","hgnc":"6021","ensembl":"ENSG00000134352","omim":"600694","loci":["5q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}