{"orpha":319569,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive MSMD due to partial IFNgammaR1 deficiency","Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency","Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"],"definition":"A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319569/","orphanet_url":"https://www.orpha.net/en/disease/detail/319569","names":{"fr":{"name":"Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel en IFNgammaR1","synonyms":["MSMD autosomique récessive par déficit partiel en IFNgammaR1","MSMD autosomique récessive par déficit partiel en récepteur 1 de l'interféron gamma"],"definition":"La prédisposition mendélienne autosomique récessive (AR) aux infections mycobactériennes (PMIM) par déficit partiel en IFNgammaR1 est une variante génétique de la PMIM caractérisée par un déficit partiel en IFN-gammaR1, conduisant à une réponse résiduelle à l'IFN-gamma et donc à des infections à bacille de Calmette-Guérin (BCG) récurrentes allant de modérées à sévères et à d'autres mycobactéries environnementales (ME)."},"de":{"name":"Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R1-Defekt","synonyms":["MSMD durch partiellen IFNgammaR1-Defekt, autosomal-rezessiv","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partiellem IFN-gRezeptor 1-Mangel, autosomal-rezessiv"],"definition":"Die autosomal-rezessiv (AR) vererbte Anfälligkeit für Krankheiten durch Mykobakterien (MSMD) aufgrund eines partiellen IFN-gammaR1-Mangels ist eine genetische Variante des MSMD (siehe dort) mit residueller IFN-gamma-Antwort. Daraus resultieren rezidivierende, mäßig schwere Infektionen mit Bazillus Calmette-Guérin (BCG) und anderen Umwelt-Mykobakterien (EM)."},"es":{"name":"Susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas por deficiencia parcial del IFNgammaR1","synonyms":["MSMD autosómica recesiva por deficiencia parcial del IFNgammaR1","MSMD autosómica recesiva por deficiencia parcial del receptor 1 del interferón-gamma"],"definition":"Es una variante genética de la susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) caracterizada por un déficit parcial de IFN-gammaR1, que da lugar a una respuesta residual del IFN-gamma y, en consecuencia, a infecciones recurrentes moderadamente graves con el bacilo Calmette-Guérin (BCG) y otras micobacterias ambientales (EM)."},"it":{"name":"Suscettibilità mendeliana autosomica recessiva a malattie micobatteriche da deficit parziale di IFNgammaR1","synonyms":["MSMD autosomica recessiva da deficit parziale del recettore dell'interferone gamma 1","MSMD autosomica recessiva da deficit parziale di IFNgammaR1","Suscettibilità mendeliana autosomica recessiva a micobatteriosi da deficit parziale del recettore dell'interferone gamma 1"],"definition":"La suscettibilità mendeliana autosomica recessiva (AR) alle malattie micobatteriche (MSMD) da deficit parziale di IFN-gammaR1 è una variante genetica della MSMD (si veda questo termine), caratterizzata da un deficit parziale di IFN-gammaR1, che provoca una risposta residua all'IFN-gamma e, di conseguenza, infezioni ricorrenti, moderatamente gravi, da bacillo di Calmette-Guérin (BCG) e da altri micobatteri ambientali (EM)."},"nl":{"name":"Autosomaal recessieve Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële IFNgammaR1-deficiëntie","synonyms":["Autosomaal recessieve MSMD door partiële IFNgammaR1-deficiëntie","Autosomaal recessieve MSMD door partiële interferon-gamma receptor 1-deficiëntie","Autosomaal recessieve Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële interferon-gamma receptor 1-deficiëntie"],"definition":"Een genetische variant van mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD), gekarakteriseerd door een partiële deficiëntie van IFN-gammaR1, wat leidt tot een residuele reactie op IFN-gamma en bijgevolg tot terugkerende en matig ernstige infecties met bacillus Calmette-Guérin (BCG) en andere mycobacteriën uit de omgeving (EM)."},"pt":{"name":"Suscetibilidade mendeliana autossómica recessiva para doenças micobacterianas por deficiência parcial de IFNgamaR1"},"pl":{"name":"Autosomalna recesywna mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru IFNgammaR1","synonyms":["Autosomalna recesywna mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru receptora 1 interferonu gamma","Autosomalna recesywna MSMD z powodu częściowego niedoboru IFNgammaR1","Autosomalna recesywna MSMD z powodu częściowego niedoboru receptora 1 interferonu gamma"]},"cs":{"name":"Autozomálně recesivní genetická vnímavost k mykobakteriální infekci způsobená částečným IFNgammaR1 deficitem","synonyms":["Autozomálně recesivní MSMD způsobená částečným IFNgammaR1 deficitem","Autozomálně recesivní MSMD způsobená částečným deficitem gama receptoru 1 interferonu","Autozomálně recesivní genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem gama receptoru 1 interferonu"]},"uk":{"name":"Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту IFNgammaR1","synonyms":["Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань через частковий дефіцит рецептора гамма-інтерферону 1","Аутосомно-рецесивна MSMD внаслідок часткового дефіциту IFNgammaR1","Аутосомно-рецесивна MSMD внаслідок часткової недостатності рецептора гамма-інтерферону 1"],"definition":"A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."},"zh":{"name":"IFNγR1基因部分缺陷所致孟德尔常染色体隐性遗传易感分枝杆菌病","synonyms":["常染色体隐性遗传干扰素γ受体1部分缺陷所致易感分枝杆菌病"],"definition":"一组孟德尔遗传易感分枝杆菌病(MSMD)的遗传变异体，其特征是干扰素γ受体1部分缺乏，导致对干扰素γ的残留反应，并因此造成反复的卡介苗（BCG）和其他环境分枝杆菌（EM）中等程度感染。"},"tr":{"name":"Kısmi IFNgammaR1 eksikliğine bağlı olarak mikobakteriyel hastalıklara otozomal resesif Mendel tipi yatkınlık","synonyms":["Kısmi IFNgammaR1 eksikliğine bağlı otozomal çekinik MSMD","Kısmi interferon gama reseptör 1 eksikliğine bağlı otozomal çekinik MSMD","Kısmi interferon gama reseptör 1 eksikliğine bağlı mikobakteriyel hastalıklara otozomal çekinik Mendelian duyarlılık"]}},"xrefs":[{"source":"OMIM","code":"209950","qualifier":"NTBT","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":"index","validated":true,"icd11_uri":"1700962029"},{"source":"MONDO","code":"0017901","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511091","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":319539,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IFNGR1","name":"interferon gamma receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5439","ensembl":"ENSG00000027697","omim":"107470","loci":["6q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"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":null}