{"orpha":695172,"name":"Combined immunodeficiency due to dimerization defective IKAROS mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to IKAROS dimerization defective mutation","Combined immunodeficiency due to dimerization defective IKZF1 mutation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-695172/","orphanet_url":"https://www.orpha.net/en/disease/detail/695172","names":{"fr":{"name":"Déficit immunitaire combiné dû à une mutation IKAROS défectueuse de la dimérisation","synonyms":["CID due à une mutation IKAROS défectueuse de la dimérisation","DIC dû à une mutation IKAROS défectueuse de la dimérisation","Déficit immunitaire combiné dû à une mutation défectueuse de la dimérisation d'IKZF1","Immunodéficience combinée due à une mutation IKAROS défectueuse de la dimérisation"]},"de":{"name":"Primärer Immundefekt durch IKAROS-Mutation mit gestörter Dimerisierung","synonyms":["CID durch IKZF1-Mutation mit assoziiertem Dimerisierungsdefekt","Immundefekt, kombinierter, durch IKZF1-Mutation mit Dimerisierungsdefekt"]},"es":{"name":"Inmunodeficiencia combinada por mutación de IKAROS con dimerización defectuosa","synonyms":["IDC por mutación de IKAROS con dimerización defectuosa","Inmunodeficiencia combinada por mutación de IKZF1 con dimerización defectuosa"]},"it":{"name":"Immunodeficienza combinata da mutazione di IKAROS con difetto della dimerizzazione","synonyms":["CID da mutazione con difetto della dimerizzazione di IKAROS","Immunodeficienza combinata da mutazione di IKZF1 con difetto della dimerizzazione"]},"nl":{"name":"Gecombineerde immuundeficiëntie door dimerisatie-deficiënte IKAROS-mutatie","synonyms":["CID door dimerisatie-deficiënte IKAROS-mutatie","Gecombineerde immuundeficiëntie door dimerisatie-deficiënte IKZF1-mutatie"]},"pt":{"name":"Combined immunodeficiency due to dimerization defective IKZF1 mutation"},"pl":{"name":"Combined immunodeficiency due to dimerization defective IKAROS mutation","synonyms":["CID due to IKAROS dimerization defective mutation","Combined immunodeficiency due to dimerization defective IKZF1 mutation"]},"cs":{"name":"Combined immunodeficiency due to dimerization defective IKAROS mutation","synonyms":["CID due to IKAROS dimerization defective mutation","Combined immunodeficiency due to dimerization defective IKZF1 mutation"]}},"xrefs":[{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"attributed","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]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"IKZF1","name":"IKAROS family zinc finger 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32845957[PMID]","hgnc":"13176","ensembl":"ENSG00000185811","omim":"603023","loci":["7p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"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}