{"orpha":695191,"name":"Late-onset combined immunodeficiency due to ICOSL deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Late-onset CID due to ICOSL deficiency","Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-695191/","orphanet_url":"https://www.orpha.net/en/disease/detail/695191","names":{"fr":{"name":"Déficit immunitaire combiné à début tardif par déficit en ICOSL","synonyms":["CID à début tardif par déficit en ICOSL","DIC à début tardif par déficit en ICOSL","Déficit immunitaire combiné à début tardif par déficit en protéine inducible T cell costimulator ligand"]},"de":{"name":"Spät auftretender kombinierter Immundefekt durch ICOSL-Mangel","synonyms":["CID durch ICOSL-Defizienz, spät-beginnend","ICOSL-Defekt"]},"es":{"name":"Inmunodeficiencia combinada de inicio tardío por deficiencia de ICOSL","synonyms":["IDC de inicio tardío por deficiencia de ICOSL","Inmunodeficiencia combinada de inicio tardío por deficiencia del ligando de la proteína coestimuladora inducible de linfocitos T"]},"it":{"name":"Immunodeficienza combinata ad esordio tardivo da deficit di ICOSL","synonyms":["CID ad esordio tardivo da deficit di ICOSL","Immunodeficienza combinata ad esordio tardivo da deficit della proteina del ligando del costimolatore inducibile dei linfociti T"]},"nl":{"name":"Laat optredende gecombineerde immuundeficiëntie door ICOSL-deficiëntie","synonyms":["Laat optredende CID door ICOSL-deficiëntie","Laat optredende gecombineerde immuundeficiëntie door deficiëntie van induceerbaar T-cel costimulator-ligandproteïne"]},"pt":{"name":"Late-onset combined immunodeficiency due to ICOSL deficiency"},"pl":{"name":"Late-onset combined immunodeficiency due to ICOSL deficiency","synonyms":["Late-onset CID due to ICOSL deficiency","Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency"]},"cs":{"name":"Late-onset combined immunodeficiency due to ICOSL deficiency","synonyms":["Late-onset CID due to ICOSL deficiency","Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency"]}},"xrefs":[{"source":"OMIM","code":"620825","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]}],"children":[],"genes":[{"symbol":"ICOSLG","name":"inducible T cell costimulator ligand","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30498080[PMID]","hgnc":"17087","ensembl":"ENSG00000160223","omim":"605717","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}