{"orpha":317473,"name":"Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CVID phenotype due to IKAROS functional haploinsufficiency","Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency"],"definition":"A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-317473/","orphanet_url":"https://www.orpha.net/en/disease/detail/317473","names":{"fr":{"name":"Phénotype de déficit immunitaire commun variable par haploinsuffisance fonctionnelle d'IKAROS","synonyms":["Phénotype d'immunodéficience commune variable par haploinsuffisance fonctionnelle d'IKAROS","Phénotype de CVID par haploinsuffisance fonctionnelle d'IKAROS","Phénotype de DICV par haploinsuffisance fonctionnelle d'IKAROS","Phénotype de déficit immunitaire commun variable par haploinsuffisance fonctionnelle d'IKZF1"],"definition":"Syndrome rare avec déficit immunitaire combiné caractérisé par un tableau clinique variable oscillant entre les cas de patients asymptomatiques et ceux présentant des infections bactériennes récurrentes, potentiellement létales, associées à une perte progressive d'immunoglobulines sériques et de lymphocytes B."},"de":{"name":"Primärer Immundefekt durch funktionelle IKAROS-Haploinsuffizienz","synonyms":["CVID durch IKAROS-Haploinsuffizienz","Variables Immundefektsyndrom durch IKZF1-Haploinsuffizienz"]},"es":{"name":"Fenotipo de inmunodeficiencia común variable por haploinsuficiencia funcional de IKAROS","synonyms":["Fenotipo de IDCV por haploinsuficiencia funcional de IKAROS","Fenotipo de inmunodeficiencia común variable por haploinsuficiencia funcional de IKZF1"],"definition":"Es un síndrome poco frecuente con inmunodeficiencia combinada caracterizado por una presentación clínica variable que varía desde individuos asintomáticos hasta infecciones bacterianas recurrentes potencialmente mortales asociadas a la pérdida progresiva de inmunoglobulinas séricas y células B."},"it":{"name":"Pancitopenia da mutazioni di IKZF1","synonyms":["CID da deficit di ikaros","Immunodeficienza combinata da deficit di ikaros"],"definition":"La pancitopenia da mutazioni di IKZF1 è una malattia rara da immunodeficienza combinata, caratterizzata da un quadro clinico variabile, che comprende soggetti asintomatici fino a soggetti con infezioni batteriche ricorrenti potenzialmente letali associate alla perdita progressiva delle immunoglobuline e dei linfociti B nel siero."},"nl":{"name":"Fenotype van gewone variabele immuundeficiëntie door functionele IKAROS-haploinsufficiëntie","synonyms":["CVID-fenotype door functionele IKAROS-haploinsufficiëntie","Fenotype van gewone variabele immuundeficiëntie door functionele IKZF1-haploinsufficiëntie"],"definition":"Een zeldzaam syndroom met gecombineerde immuundeficiëntie, gekarakteriseerd door een variabel klinisch beeld gaande van asymptomatisch tot potentieel levensbedreigend, en terugkerende bacteriële infecties, geassocieerd met progressief verlies van immunoglobulinen en B-cellen in serum."},"pt":{"name":"Fenótipo de imunodeficiência comum variável devido à haploinsuficiência funcional IKAROS","synonyms":["Fenótipo CVID devido à haploinsuficiência funcional IKAROS","Fenótipo de imunodeficiência comum variável devido à haploinsuficiência funcional IKZF1"]},"pl":{"name":"Pancytopenia spowodowana mutacjami IKZF1","synonyms":["CID spowodowny niedoborem IKAROS","Złożony niedobór odporności spowodowny niedoborem IKAROS"]},"cs":{"name":"Pancytopenie způsobená mutacemi v genu IKZF1","synonyms":["CID způsobená deficitem genu ikaros","Kombinovaná imunodeficience způsobená deficitem genu ikaros"]},"uk":{"name":"Панцитопенія, зумовлена мутацією IKZF1","synonyms":["КІД через дефіцит IKAROS","Комбінований імунодефіцит внаслідок дефіциту IKAROS"],"definition":"A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells."},"zh":{"name":"IKZF1基因突变所致全血细胞减少症","synonyms":["IKAROS缺陷所致联合免疫缺陷"],"definition":"一种罕见的联合免疫缺陷综合征，从无症状个体到潜在威胁生命的反复细菌感染都可能是其临床表现，感染与血清免疫球蛋白和B细胞逐渐丧失有关。"},"tr":{"name":"IKZF1 mutasyonlarına bağlı pansitopeni","synonyms":["IKAROS eksikliğine bağlı CID","IKAROS eksikliğine bağlı kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"616873","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":"index","validated":true,"icd11_uri":"1240674590"},{"source":"MONDO","code":"0014810","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190826","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":696870,"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","classifications":[156,195]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"IKZF1","name":"IKAROS family zinc finger 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21548011[PMID]_26981933[PMID]","hgnc":"13176","ensembl":"ENSG00000185811","omim":"603023","loci":["7p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":39.0,"area":"Worldwide","status":"Validated","source":"21548011[PMID]_26981933[PMID]_27939403[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21548011[PMID]_26981933[PMID]_27939403[PMID]"}],"phenotypes":null}