{"orpha":695183,"name":"Late-onset combined immunodeficiency due to ICOS deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Late-onset CID due to ICOS deficiency","Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-695183/","orphanet_url":"https://www.orpha.net/en/disease/detail/695183","names":{"fr":{"name":"Déficit immunitaire combiné à début tardif par déficit en ICOS","synonyms":["CID à début tardif par déficit en ICOS","DIC à début tardif par déficit en ICOS","Déficit immunitaire combiné à début tardif par déficit en protéine inducible T-cell costimulator"]},"de":{"name":"Spät auftretender kombinierter Immundefekt durch ICOS-Mangel","synonyms":["CID durch ICOS-Defizienz, spät-beginnend"]},"es":{"name":"Inmunodeficiencia combinada de inicio tardío por deficiencia de ICOS","synonyms":["IDC de inicio tardío por deficiencia de ICOS","Inmunodeficiencia combinada de inicio tardío por deficiencia de la proteína coestimuladora inducible de linfocitos T"]},"it":{"name":"Immunodeficienza combinata ad esordio tardivo da deficit di ICOS","synonyms":["CID ad esordio tardivo da deficit di ICOS","Immunodeficienza combinata ad esordio tardivo da deficit della proteina del costimolatore inducibile dei linfociti T"]},"nl":{"name":"Laat optredende gecombineerde immuundeficiëntie door ICOS-deficiëntie","synonyms":["Laat optredende CID door ICOS-deficiëntie","Laat optredende gecombineerde immuundeficiëntie door deficiëntie van induceerbaar T-cel costimulator-proteïne"]},"pt":{"name":"Late-onset combined immunodeficiency due to ICOS deficiency"},"pl":{"name":"Late-onset combined immunodeficiency due to ICOS deficiency","synonyms":["Late-onset CID due to ICOS deficiency","Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency"]},"cs":{"name":"Late-onset combined immunodeficiency due to ICOS deficiency","synonyms":["Late-onset CID due to ICOS deficiency","Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency"]}},"xrefs":[{"source":"OMIM","code":"607594","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":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"ICOS","name":"inducible T cell costimulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12577056[PMID]","hgnc":"5351","ensembl":"ENSG00000163600","omim":"604558","loci":["2q33.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}