{"orpha":697389,"name":"Combined immunodeficiency due to HELIOS deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to HELIOS deficiency","Combined immunodeficiency due to IKAROS family zinc finger 2 deficiency","Combined immunodeficiency due to IKZF2 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-697389/","orphanet_url":"https://www.orpha.net/en/disease/detail/697389","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en HELIOS","synonyms":["CID par déficit en HELIOS","DIC par déficit en HELIOS","Déficit immunitaire combiné par déficit en IKZF2","Déficit immunitaire combiné par déficit en protéine IKAROS family zinc finger 2","Immunodéficience combinée par déficit en HELIOS"]},"de":{"name":"Immundefekt, kombinierter, durch HELIOS-Mangel","synonyms":["CID durch HELIOS-Defizienz","Immundefekt, kombinierter, durch IKZF2-Defizienz"]},"es":{"name":"Inmunodeficiencia combinada por deficiencia de HELIOS","synonyms":["IDC por deficiencia de HELIOS","Inmunodeficiencia combinada por deficiencia de IKZF2","Inmunodeficiencia combinada por deficiencia del dedo de zinc 2 de la familia IKAROS"]},"it":{"name":"Immunodeficienza combinata da deficit di HELIOS","synonyms":["CID da deficit di HELIOS","Sindrome immunodeficienza combinata da deficit del dito di zinco 2 della famiglia IKAROS","Immunodeficienza combinata da deficit di IKZF2"]},"nl":{"name":"Gecombineerde immuundeficiëntie door HELIOS-deficiëntie","synonyms":["CID door HELIOS-deficiëntie","Gecombineerde immuundeficiëntie door IKZF2-deficiëntie","Gecombineerde immuundeficiëntie door deficiëntie van IKAROS-familie zinkvinger 2"]},"pt":{"name":"Combined immunodeficiency-hypogammaglobulinemia due to HELIOS deficiency"},"pl":{"name":"Combined immunodeficiency due to HELIOS deficiency","synonyms":["CID due to HELIOS deficiency","Combined immunodeficiency due to IKAROS family zinc finger 2 deficiency","Combined immunodeficiency due to IKZF2 deficiency"]},"cs":{"name":"Combined immunodeficiency due to HELIOS deficiency","synonyms":["CID due to HELIOS deficiency","Combined immunodeficiency due to IKAROS family zinc finger 2 deficiency","Combined immunodeficiency due to IKZF2 deficiency"]}},"xrefs":[{"source":"OMIM","code":"621233","qualifier":"E","icd_relation":null,"validated":true},{"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":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"IKZF2","name":"IKAROS family zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34826260[PMID]","hgnc":"13177","ensembl":"ENSG00000030419","omim":"606234","loci":["2q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"34826260[PMID]_34826259[PMID]_34920454[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34826260[PMID]_34826259[PMID]_34920454[PMID]_ORPHANET"}],"phenotypes":null}