{"orpha":319600,"name":"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSMD due to partial IRF8 deficiency","MSMD due to partial interferon regulatory factor 8 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319600/","orphanet_url":"https://www.orpha.net/en/disease/detail/319600","names":{"fr":{"name":"Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en IRF8","synonyms":["MSMD par déficit partiel en IRF8","MSMD par déficit partiel en facteur 8 régulateur de l'interféron","Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en facteur 8 régulateur de l'interféron"],"definition":"La prédisposition mendélienne aux infections mycobactériennes (PMIM) par déficit partiel en facteur 8 régulateur de l'interféron (IRF8) est une variante génétique rare de la PMIM caractérisée par une susceptibilité sélective à des infections relativement modérées au bacille de Calmette-Guérin (BCG)."},"de":{"name":"Suszeptibilität für Mykobakteriosen durch partiellen IRF8-Defekt","synonyms":["MSMD durch partiellen IRF8-Defekt","MSMD durch partiellen Interferon-Regulationsfaktor 8-Mangel","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei IRF8-Mangel"],"definition":"Die autosomal-dominant vererbte (AD) Anfälligkeit für Krankheiten durch Mykobakterien (MSMD) mit partiellem IRF8 (<i>Interferon Regulatory Factor 8</i>)-Mangel, eine seltene genetische Variante des MSMD (siehe dort), ist durch selektive Anfälligkeit für relativ milde Infektionen mit Bazillus Calmette-Guérin (BCG) gekennzeichnet."},"es":{"name":"Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia parcial del IRF89","synonyms":["MSMD por deficiencia parcial del IRF89","MSMD por deficiencia parcial del factor regulador del interferón 8","Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia parcial del factor regulador de interferón 8"],"definition":"La susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) por déficit parcial del IRF8 (factor regulador de interferón 8) es una variante genética poco frecuente de la MSMD (consulte este término), que se caracteriza por una susceptibilidad selectiva a infecciones relativamente leves con el bacilo Calmette-Guérin (BCG)."},"it":{"name":"Suscettibilità mendeliana a malattie micobatteriche da deficit parziale di IRF8","synonyms":["MSMD da deficit parziale del fattore regolatore dell'interferone 8","MSMD da deficit parziale di IRF8","Suscettibilità mendeliana a malattie micobatteriche da deficit del fattore regolatore dell'interferone 8"],"definition":"La suscettibilità mendeliana alle malattie micobatteriche (MSMD) da deficit parziale di IRF8 (fattore regolatore dell'interferone 8) è una variante genetica rara della MSMD (si veda questo termine), caratterizzata da una suscettibilità selettiva alle infezioni relativamente lievi da bacillo di Calmette-Guérin (BCG)."},"nl":{"name":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële IRF8-deficiëntie","synonyms":["MSMD door partiële IRF8-deficiëntie","MSMD door partiële interferon-regulerende factor 8-deficiëntie","Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële interferon-regulerende factor 8-deficiëntie"],"definition":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD) door partiële IRF8 (interferon-regulerende factor 8)-deficiëntie is een genetische variant van MSMD (zie deze term) die wordt gekarakteriseerd door een selectieve gevoeligheid voor relatief milde infecties met bacillus Calmette-Guérin (BCG)."},"pt":{"name":"Suscetibilidade mendeliana a doenças micobacterianas por deficiência parcial de IRF8"},"pl":{"name":"Mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru IRF8","synonyms":["Mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru regulatorowego czynnika interferonu 8","MSMD z powodu częściowego niedoboru IRF8","MSMD z powodu częściowego niedoboru regulatorowego czynnika interferonu 8"]},"cs":{"name":"Genetická vnímavost k mykobakteriální infekci způsobená částečným IRF8 deficitem","synonyms":["MSMD způsobená částečným IRF8 deficitem","MSMD způsobená částečným deficitem regulačního faktoru 8 interferonu","Genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem regulačního faktoru 8 interferonu"]},"uk":{"name":"Менделевська сприйнятливість до мікобактеріальних захворювань внаслідок часткового дефіциту IRF8","synonyms":["Менделевська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту регуляторного фактора 8 інтерферону","MSMD внаслідок часткового дефіциту регуляторного фактору 8 інтерферону","MSMD через частковий дефіцит IRF8"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG).."},"zh":{"name":"IRF8基因部分缺陷所致孟德尔遗传易感分枝杆菌病","synonyms":["干扰素调节因子8部分缺陷所致MSMD"],"definition":"部分IRF8(干扰素调节因子8)缺乏所致孟德尔遗传易感分枝杆菌病(MSMD)是一种罕见的MSMD（见该术语）遗传变异体，其特征是对卡介苗(BCG)选择性易感，感染程度相对较轻。"},"tr":{"name":"Kısmi IRF8 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık","synonyms":["Kısmi interferon düzenleyici faktör 8 eksikliğine bağlı mikobakteriyel hastalıklara Mendelian duyarlılığı","Kısmi IRF8 eksikliği nedeniyle MSMD","Kısmi interferon düzenleyici faktör 8 eksikliğine bağlı MSMD"]}},"xrefs":[{"source":"OMIM","code":"614893","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013957","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509854","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":319543,"name":"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IRF8","name":"interferon regulatory factor 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5358","ensembl":"ENSG00000140968","omim":"601565","loci":["16q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25453225[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25453225[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null}]}}