{"orpha":656313,"name":"Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AD CID due to partial GP130 deficiency","AD CID due to partial IL6ST deficiency","Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency","Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-656313/","orphanet_url":"https://www.orpha.net/en/disease/detail/656313","names":{"fr":{"name":"Déficit immunitaire combiné autosomique dominant par déficit partiel en IL6ST","synonyms":["CID autosomique dominante par déficit partiel en GP130","CID autosomique dominante par déficit partiel en IL6ST","DIC autosomique dominant par déficit partiel en GP130","DIC autosomique dominant par déficit partiel en IL6ST","Déficit immunitaire combiné autosomique dominant par déficit partiel en glycoprotéine 130","Déficit immunitaire combiné autosomique dominant par déficit partiel en interleukin 6 signal transducer","Immunodéficience combinée autosomique dominante par déficit partiel en IL6ST"]},"de":{"name":"Kombinierter Immundefekt, autosomal-dominanter, durch partiellen IL6ST-Mangel","synonyms":["AD-CID durch partiellen IL6ST-Mangel","Autosomal-dominanter kombinierter Immundefekt aufgrund eines partiellen Mangels an Glykoprotein 130","Hyper-IgE-Syndrom, autosomal-dominantes, durch IL6ST-Defizienz"]},"es":{"name":"Inmunodeficiencia combinada autosómica dominante por deficiencia parcial de IL6ST","synonyms":["Inmunodeficiencia combinada autosómica dominante por deficiencia parcial de la glucoproteína 130","Inmunodeficiencia combinada autosómica dominante por deficiencia parcial de la proteína traductora de señal de la IL6","IDC AD por deficiencia parcial de GP130","IDC AD por deficiencia parcial de IL6ST"]},"it":{"name":"Immunodeficienza combinata autosomica dominante da deficit parziale di IL6ST","synonyms":["CID AD da deficit parziale di GP130","CID AD da deficit parziale di IL6ST","Immunodeficienza combinata autosomica dominante da deficit parziale della proteina che trasduce il segnale dell’interleuchina 6"]},"nl":{"name":"Autosomaal dominante gecombineerde immuundeficiëntie door partiële IL6ST-deficiëntie","synonyms":["AD CID door partiële GP130-deficiëntie","AD CID door partiële IL6ST-deficiëntie","Autosomaal dominante gecombineerde immuundeficiëntie door partiële deficiëntie van glycoproteïne 130","Autosomaal dominante gecombineerde immuundeficiëntie door partiële deficiëntie van signaaltransductieproteïne interleukine 6"]},"pt":{"name":"Imunodeficiência combinada autossómica dominante devida a deficiência parcial de IL6ST","synonyms":["AD CID devido a deficiência parcial de GP130","AD CID devido a deficiência parcial de IL6ST","Imunodeficiência combinada autossómica dominante devida a deficiência parcial de glicoproteina 130","Imunodeficiência combinada autossómica dominante devida a deficiência parcial de proteína transdutora de sinal interleucina 6"]},"pl":{"name":"Autosomalny dominujący złożony niedobór odporności spowodowany częściowym niedoborem IL6ST","synonyms":["AD CID due to partial GP130 deficiency","AD CID due to partial IL6ST deficiency","Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency","Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency"]},"cs":{"name":"Autozomálně dominantní kombinovaná imunodeficience způsobená částečným deficitem IL6ST","synonyms":["AD CID due to partial GP130 deficiency","AD CID due to partial IL6ST deficiency","Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency","Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency"]},"uk":{"name":"Аутосомно-домінантний комбінований імунодефіцит, зумовлений частковою недостатністю IL6ST","synonyms":["АД КІД через часткову недостатність GP130","АД КІД внаслідок часткового дефіциту IL6ST","Аутосомно-домінантний комбінований імунодефіцит, зумовлений частковою недостатністю глікопротеїну 130","Аутосомно-домінантний комбінований імунодефіцит, зумовлений частковою недостатністю білка трансдуктора сигналу інтерлейкіну 6"]}},"xrefs":[{"source":"OMIM","code":"619752","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958117","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958117","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925105","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":331223,"name":"Hyper-IgE syndrome","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IL6ST","name":"interleukin 6 cytokine family signal transducer","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35748970[PMID]","hgnc":"6021","ensembl":"ENSG00000134352","omim":"600694","loci":["5q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}