{"orpha":574918,"name":"Predisposition to severe viral infection due to IRF7 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary immunodeficiency characterized by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-574918/","orphanet_url":"https://www.orpha.net/en/disease/detail/574918","names":{"fr":{"name":"Prédisposition aux infections virales sévères par déficit en IRF7","definition":"Déficit immunitaire primaire rare caractérisé par une évolution sévère, potentiellement létale, de l'infection par le virus influenza de type A, accompagnée d'une détresse respiratoire aiguë. La production d'interférons de type I et III en réponse au virus de la grippe est très faible. Aucune autre anomalie immunologique ni infection virale inhabituelle n'est observée."},"de":{"name":"Prädisposition zur schweren Virusinfektion durch IRF7-Defizienz","definition":"Ein seltener primärer Immundefekt, der durch einen schweren, potenziell lebensbedrohlichen Verlauf einer Influenza-A-Infektion mit akuter Atemnot gekennzeichnet ist. Die Produktion von Interferonen des Typs I und III als Reaktion auf das Influenzavirus ist sehr gering, während andere immunologische Anomalien fehlen und keine weiteren ungewöhnlichen Virusinfektionen auftreten."},"es":{"name":"Predisposición a infección viral grave por deficiencia de IRF7","definition":"Es una inmunodeficiencia primaria poco frecuente caracterizada por un curso grave y potencialmente mortal de infección por influenza A con dificultad respiratoria aguda. La producción de interferones de tipo I y III en respuesta al virus de la influenza es muy baja, mientras que otras anomalías inmunológicas están ausentes y no se producen otras infecciones virales inusuales."},"it":{"name":"Predisposizione alle infezioni virali gravi da deficit di IRF7"},"nl":{"name":"Predispositie voor ernstige virale infectie door IRF7-deficiëntie","definition":"Een zeldzame primaire immuundeficiëntie, gekenmerkt door een ernstig, potentieel levensbedreigend verloop van infectie door influenza A met acute ademnood. De productie van type I en III interferonen als reactie op influenzavirus is zeer laag, terwijl andere immunologische afwijkingen afwezig zijn en er verder geen ongewone virale infecties optreden."},"pt":{"name":"Predisposição a infecção virica grave por deficiência de IRF7","definition":"Imunodeficiência primária rara caracterizada por um curso grave e potencialmente fatal de infeção por influenza A com desconforto respiratório agudo. A produção de interferão do tipo I e III em resposta ao vírus influenza é muito baixa, enquanto outras anomalias imunológicas estão ausentes e não ocorrem outras infeções virais incomuns."},"pl":{"name":"Predyspozycja do ciężkiej infekcji wirusowej z powodu niedoboru IRF7"},"cs":{"name":"Predispozice k těžké virové infekci způsobené deficitem IRF7"},"uk":{"name":"Схильність до тяжких вірусних інфекцій через дефіцит IRF7","definition":"A rare primary immunodeficiency characterized by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur."},"zh":{"name":"IRF7基因缺陷诱发的严重病毒感染"},"tr":{"name":"IRF7 eksikliği nedeniyle ağır viral enfeksiyona yatkınlık"}},"xrefs":[{"source":"OMIM","code":"616345","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035547","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14597","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"35547","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225358","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":431156,"name":"Primary immunodeficiency with predisposition to severe viral infection","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IRF7","name":"interferon regulatory factor 7","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"25814066[PMID]","hgnc":"6122","ensembl":"ENSG00000185507","omim":"605047","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"25814066[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25814066[PMID]"}],"phenotypes":null}