{"orpha":431149,"name":"Combined immunodeficiency due to OX40 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Combined immunodeficiency with childhood-onset Kaposi sarcoma","Combined immunodeficiency with impaired immunity to HHV-8","Combined immunodeficiency with impaired immunity to human herpes virus 8"],"definition":"Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-431149/","orphanet_url":"https://www.orpha.net/en/disease/detail/431149","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en OX40","synonyms":["Déficit immunitaire combiné associé à l'HHV-8","Déficit immunitaire combiné associé à l'herpèsvirus humain 8","Déficit immunitaire combiné associé à une sarcome de Kaposi de l'enfant"],"definition":"Déficit immunitaire combiné T et B rare caractérisé par une susceptibilité à développer un sarcome de Kaposi agressif, disséminé, cutané et systémique, apparaissant dans l'enfance."},"de":{"name":"Immundefekt, kombinierter, durch OX40-Mangel","synonyms":["Immundefekt, kombinierter, mit Kaposi-Sarkom mit Beginn im Kindesalter","Immundefekt, kombinierter, mit gestörter Immunität durch HHV-8","Immundefekt, kombinierter, mit gestörter Immunität durch humanes Herpes 8 Virus"],"definition":"Ein seltener kombinierter T- und B-Zell-Immundefekt, der durch die Anfälligkeit zur Entwicklung eines aggressiven, im Kindesalter auftretenden, disseminierten, kutanen und systemischen Kaposi-Sarkoms gekennzeichnet ist."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de OX40","synonyms":["Inmunodeficiencia combinada con alteración de la inmunidad al VHH-8","Inmunodeficiencia combinada con alteración de la inmunidad al virus del herpes humano 8","Inmunodeficiencia combinada con alteración de la inmunidad por HHV-8","Inmunodeficiencia combinada con alteración de la inmunidad por el virus del herpes humano 8","Inmunodeficiencia combinada con sarcoma de Kaposi de inicio en la infancia"],"definition":"La inmunodeficiencia combinada debida a una deficiencia de OX40, es una inmunodeficiencia combinada de células T y B poco frecuente caracterizada por susceptibilidad a desarrollar sarcoma de Kaposi diseminado, cutáneo, sistémico, agresivo y de inicio en la infancia."},"it":{"name":"Immunodeficienza combinata da deficit di OX40","synonyms":["Immunodeficienza combinata con alterazione dell'immunità da HHV-8","Immunodeficienza combinata con alterazione dell'immunità da herpes virus umano 8","Immunodeficienza combinata con sarcoma di Kaposi a esordio infantile"],"definition":"L'immunodeficienza combinata da deficit di OX40 è un'immunodeficienza rara combinata delle cellule T e B, caratterizzata da suscettibilità al sarcoma di Kaposi ad esordio infantile, aggressivo, disseminato, cutaneo e sistemico."},"nl":{"name":"Gecombineerde immuundeficiëntie door OX40-deficiëntie","synonyms":["Gecombineerde immuundeficiëntie met in de kindertijd optredend Kaposi-sarcoom","Gecombineerde immuundeficiëntie met verstoorde immuniteit tegen HHV-8","Gecombineerde immuundeficiëntie met verstoorde immuniteit tegen humaan herpesvirus 8"],"definition":"Gecombineerde immuundeficiëntie door OX40-deficiëntie is een zeldzame gecombineerde T- en B-cel immuundeficiëntie die gekarakteriseerd wordt door vatbaarheid om een agressief, in de kindertijd aanvangend, verspreid, cutaan en systemisch Kaposisarcoom te ontwikkelen."},"pt":{"name":"Imunodeficiência combinada por deficiência de OX40"},"pl":{"name":"Złożony Niedobór odporności spowodowany niedoborem OX40","synonyms":["Złożony Niedobór odporności z mięsakiem Kaposiego o poczatku w wieku dziecięcym","Złożony Niedobór odporności z upośledzoną odpornością na HHV-8","Złożony Niedobór odporności z upośledzoną odpornością na ludzki herpes wirus 8 en"]},"cs":{"name":"Kombinovaný imunodeficit způsobená deficitem OX40","synonyms":["Kombinovaná imunodeficience s Kaposiho sarkomem vznikajícím v dětství","Kombinovaná imunodeficience s poruchou imunity vůči HHV-8","Kombinovaná imunodeficience s poruchou imunity vůči lidskému herpes viru 8"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом OX40","synonyms":["Комбінований імунодефіцит з дитячою саркомою Капоші","Комбінований імунодефіцит зі зниженим імунітетом до HHV-8","Комбінований імунодефіцит зі зниженим імунітетом до вірусу герпесу людини 8"],"definition":"Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma."},"zh":{"name":"OX40缺乏所致联合免疫缺陷","synonyms":["联合免疫缺陷合并对人疱疹病毒-8免疫力下降"],"definition":"由于OX40缺乏而引起的联合免疫缺陷病是一种罕见的T细胞和B细胞联合免疫缺陷，其特征是易发展为侵袭性的，儿童时期发作的，弥散性的皮肤和全身性卡波西肉瘤。"},"tr":{"name":"OX40 eksikliğine bağlı kombine immün yetmezlik","synonyms":["HHV-8'e bozulmuş bağışıklık ile seyreden kombine immün yetmezlik","Çocukluk çağı başlangıçlı Kaposi sarkomu ile seyreden kombine immün yetmezlik","İnsan herpes virüsüne karşı bozulmuş bağışıklık 8 ile seyreden kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"615593","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},{"source":"MONDO","code":"0014268","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707864","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":718079,"name":"Combined immunodeficiency with normal B cells and normal immunoglubulins","classifications":[156,195,233]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"TNFRSF4","name":"TNF receptor superfamily member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23897980[PMID]","hgnc":"11918","ensembl":"ENSG00000186827","omim":"600315","loci":["1p36.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"23897980[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23897980[PMID]"}],"phenotypes":null}