{"orpha":699590,"name":"Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-699590/","orphanet_url":"https://www.orpha.net/en/disease/detail/699590","names":{"fr":{"name":"Dérèglement immunitaire avec immunodéficience par haploinsuffisance d'AIOLOS"},"de":{"name":"Immundysregulation mit Immundefekt durch AIOLOS-Haploinsuffizienz"},"es":{"name":"Desregulación inmunológica con inmunodeficiencia por haploinsuficiencia de AIOLOS"},"it":{"name":"Disregolazione immunitaria con immunodeficienza da aploinsufficienza di AIOLOS"},"nl":{"name":"Immuundisregulatie met immuundeficiëntie door AIOLOS-haploinsufficiëntie"},"pt":{"name":"Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency"},"pl":{"name":"Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency"},"cs":{"name":"Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency"}},"xrefs":[{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"4A01.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"IKZF3","name":"IKAROS family zinc finger 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38015619[PMID]","hgnc":"13178","ensembl":"ENSG00000161405","omim":"606221","loci":["17q12-q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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}