{"orpha":699593,"name":"Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CID-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency","CID-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency","Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-699593/","orphanet_url":"https://www.orpha.net/en/disease/detail/699593","names":{"fr":{"name":"Syndrome de déficit immunitaire combiné-lymphopénie-prédisposition aux cancers par déficit en AIOLOS","synonyms":["Syndrome d'immunodéficience combinée-lymphopénie-prédisposition aux cancers par déficit en AIOLOS","Syndrome de CID-lymphopénie-prédisposition aux cancers par déficit en AIOLOS","Syndrome de CID-lymphopénie-prédisposition aux cancers par déficit en IKZF3","Syndrome de DIC-lymphopénie-prédisposition aux cancers par déficit en AIOLOS","Syndrome de DIC-lymphopénie-prédisposition aux cancers par déficit en IKZF3","Syndrome de déficit immunitaire combiné-lymphopénie-prédisposition aux cancers par déficit en IKZF3"]},"de":{"name":"Kombinierter Immundefekt mit Lymphozytopenie und Krebsprädisposition durch AIOLOS-Mangel","synonyms":["CID mit Lymphozytopenie und Krebsprädispositiondurch AIOLOS-Defizienz","CID mit Lymphozytopenie und Krebsprädispositiondurch IKZF3-Defizienz"]},"es":{"name":"Síndrome de inmunodeficiencia combinada-linfopenia-predisposición al cáncer por deficiencia de AIOLOS","synonyms":["Síndrome de IDC-linfopenia-predisposición al cáncer por deficiencia de IKZF3","Síndrome de inmunodeficiencia combinada-linfopenia-predisposición al cáncer por deficiencia de IKZF3","Síndrome de IDC-linfopenia-predisposición al cáncer por deficiencia de AIOLOS"]},"it":{"name":"Sindrome immunodeficienza combinata-linfopenia-suscettibilità ai tumori da deficit di AIOLOS","synonyms":["Sindrome CID- linfopenia- suscettibilità ai tumori da deficit di AIOLOS","Sindrome CID-linfopenia- suscettibilità ai tumori da deficit di IKZF3","Sindrome immunodeficienza combinata-linfopenia- suscettibilità ai tumori da deficit di IKZF3"]},"nl":{"name":"Gecombineerde immuundeficiëntie - lymfopenie - kankerpredispositiesyndroom door AIOLOS-deficiëntie","synonyms":["CID - lymfopenie - kankerpredispositiesyndroom door AIOLOS-deficiëntie","CID - lymfopenie - kankerpredispositiesyndroom door IKZF3-deficiëntie","Gecombineerde immuundeficiëntie - lymfopenie - kankerpredispositiesyndroom door IKZF3-deficiëntie"]},"pt":{"name":"Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency"},"pl":{"name":"Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency","synonyms":["CID-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency","CID-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency","Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency"]},"cs":{"name":"Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency","synonyms":["CID-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency","CID-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency","Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency"]}},"xrefs":[{"source":"OMIM","code":"619437","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":697385,"name":"Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency","classifications":[156,195,202,233]}],"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":"34155405[PMID]","hgnc":"13178","ensembl":"ENSG00000161405","omim":"606221","loci":["17q12-q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}