{"orpha":697414,"name":"Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset CID with low Ig due to dominant-negative IKAROS mutation","Early-onset CID with low Ig due to dominant-negative IKZF1 mutation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-697414/","orphanet_url":"https://www.orpha.net/en/disease/detail/697414","names":{"fr":{"name":"Déficit immunitaire combiné avec faibles Ig à début précoce asocié à une mutation dominante négative d'IKAROS","synonyms":["CID avec faibles Ig à début précoce associée à une mutation dominante négative d'IKAROS","DIC avec faibles Ig à début précoce associé à une mutation dominante négative d'IKAROS","Déficit immunitaire combiné avec faibles Ig à début précoce asocié à une mutation dominante négative d'IKZF1","Immunodéficience combinée avec faibles Ig à début précoce associée à une mutation dominante négative d'IKAROS"]},"de":{"name":"Primärer Immundefekt durch IKAROS-Mutation mit dominant-negativem Effekt","synonyms":["CID durch IKZF1-Mutation mit dominant-negativem Effekt","Früh einsetzender kombinierter Immundefekt mit niedrigem Ig-Wert durch dominant-negative IKAROS-Mutation"]},"es":{"name":"Inmunodeficiencia combinada con niveles bajos de Ig por mutación dominante negativa de IKAROS de inicio precoz","synonyms":["IDC con niveles bajos de Ig por mutación dominante negativa de IKAROS de inicio precoz","IDC con niveles bajos de Ig por mutación dominante negativa de IKZF1 de inicio precoz"]},"it":{"name":"Immunodeficienza combinata ad esordio precoce con livelli bassi di Ig da mutazione dominante negativa di IKAROS","synonyms":["CID ad esordio precoce con livelli bassi di Ig da mutazione dominante negativa di IKZF1","CID ad esordio precoce con livelli bassi di Ig da mutazione dominante negativa di IKAROS"]},"nl":{"name":"Vroeg optredende gecombineerde immuundeficiëntie met lage Ig door dominant-negatieve IKAROS-mutatie","synonyms":["Vroeg optredende CID met lage Ig door dominant-negatieve IKAROS-mutatie","Vroeg optredende CID met lage Ig door dominant-negatieve IKZF1-mutatie"]},"pt":{"name":"Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation"},"pl":{"name":"Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation","synonyms":["Early-onset CID with low Ig due to dominant-negative IKAROS mutation","Early-onset CID with low Ig due to dominant-negative IKZF1 mutation"]},"cs":{"name":"Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation","synonyms":["Early-onset CID with low Ig due to dominant-negative IKAROS mutation","Early-onset CID with low Ig due to dominant-negative 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":688571,"name":"Combined immunodeficiency with low immunoglobulins and normal B cells","classifications":[156,195,233]},{"orpha":619340,"name":"Inherited hematologic cancer-predisposing 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":"35087518[PMID]_36433803[PMID]","hgnc":"13176","ensembl":"ENSG00000185811","omim":"603023","loci":["7p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"36433803[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36433803[PMID]_ORPHANET"}],"phenotypes":null}