{"orpha":656912,"name":"Autosomal dominant combined immunodeficiency due to ERBIN deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AD-CID due to ERBIN deficiency","Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-656912/","orphanet_url":"https://www.orpha.net/en/disease/detail/656912","names":{"fr":{"name":"Déficit immunitaire combiné autosomique dominant par déficit en ERBIN","synonyms":["CID autosomique dominante par déficit en ERBIN","DIC autosomique dominant par déficit en ERBIN","Déficit immunitaire combiné autosomique dominant par déficit en erbb2 interacting protein","Immunodéficience combinée autosomique dominante par défict en ERBIN"]},"de":{"name":"Kombinierter Immundefekt, autosomal-dominanter, durch ERBIN-Mangel","synonyms":["Autosomal-dominanter kombinierter Immundefekt aufgrund eines Mangels an erbb2-interagierendem Protein","CID durch ERBIN-Defizienz"]},"es":{"name":"Inmunodeficiencia combinada autosómica dominante por deficiencia de ERBIN","synonyms":["IDC AD por deficiencia de ERBIN","Inmunodeficiencia combinada autosómica dominante por deficiencia de la proteína de interacción erbB2"]},"it":{"name":"Immunodeficienza combinata autosomica dominante da deficit di ERBIN","synonyms":["CID AD da deficit di ERBIN","Immunodeficienza combinata autosomica dominante da deficit della proteina che interagisce con erbb2"]},"nl":{"name":"Autosomaal dominante gecombineerde immuundeficiëntie door ERBIN-deficiëntie","synonyms":["AD CID door ERBIN-deficiëntie","Autosomaal dominante gecombineerde immuundeficiëntie door deficiëntie van erbb2-interactieproteïne"]},"pt":{"name":"Imunodeficiência combinada autossómica dominante devida a deficiência de ERBIN","synonyms":["AD-CID devido a deficiência ERBIN","Imunodeficiência combinada autossómica dominante devida a deficiência de proteína de interação erbb2"]},"pl":{"name":"Autosomalny dominujący złożony niedobór odporności z niedoborem ERBIN","synonyms":["AD-CID due to ERBIN deficiency","Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency"]},"cs":{"name":"Autozomálně dominantní kombinovaná imunodeficience způsobená ERBIN deficitem","synonyms":["AD-CID due to ERBIN deficiency","Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency"]},"uk":{"name":"Аутосомно-домінантний комбінований імунодефіцит, зумовлений дефіцитом ERBIN","synonyms":["АД КІД через дефіцит ERBIN","Аутосомно-домінантний комбінований імунодефіцит, зумовлений дефіцитом білка, що взаємодіє з erbb2"]}},"xrefs":[{"source":"ICD-10","code":"D82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958120","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958120","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925110","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":331223,"name":"Hyper-IgE syndrome","classifications":[156,195]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]}],"children":[],"genes":[{"symbol":"ERBIN","name":"erbb2 interacting protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28126831[PMID]","hgnc":"15842","ensembl":"ENSG00000112851","omim":"606944","loci":["5q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}