{"orpha":319589,"name":"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant MSMD due to partial IFNgammaR2 deficiency","Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency","Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"],"definition":"A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired 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-319589/","orphanet_url":"https://www.orpha.net/en/disease/detail/319589","names":{"fr":{"name":"Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel en IFNgammaR2","synonyms":["MSMD autosomique dominante par déficit partiel en IFNgammaR2","MSMD autosomique dominante par déficit partiel en récepteur 2 de l'interféron gamma"],"definition":"La prédisposition mendélienne autosomique dominante (AD) aux infections mycobactériennes (PMIM) par déficit partiel en IFN-gammaR2 est une variante génétique de la PMIM caractérisée par un déficit partiel en IFN-gamma-R2 conduisant à une détérioration de la réponse de 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-dominante Suszeptibilität für Mykobakteriosen durch partiellen IFN-gamma-R2-Defekt","synonyms":["MSMD durch partiellen IFNgammaR2-Defekt, autosomal-dominant","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partiellem IFN-gRezeptor 2-Mangel, autosomal-dominant"],"definition":"Die autosomal-dominant vererbte (AD) Anfälligkeit für Krankheiten durch Mykobakterien (MSMD) aufgrund eines teilweisen Mangels des Interferon-gamma-Rezeptors 2 (IFN-gammaR2) ist eine genetische Variante des MSMD (siehe dort) mit beeinträchtigter IFN-gamma-Antwort und, als Folge davon, rezidivierenden, mäßig schweren Infektionen mit Bazillus Calmette-Guérin (BCG) und Umwelt-Mykobakterien (EM)."},"es":{"name":"Susceptibilidad mendeliana autosómica dominante a enfermedades micobacterianas por deficiencia parcial del IFNgammaR2","synonyms":["MSMD autosómica dominante por deficiencia parcial del IFNgammaR2","MSMD autosómica dominante por deficiencia parcial del receptor 2 del interferón-gamma"],"definition":"Es una variante genética de la susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) caracterizada por un déficit parcial en el IFN-gammaR2 que conduce a una alteración de la respuesta al 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 dominante a malattie micobatetriche da deficit parziale di IFNgammaR2","synonyms":["MSMD autosomica dominante da deficit parziale del recettore dell'interferone gamma 2","MSMD autosomica dominante da deficit parziale di IFNgammaR2","Suscettibilità mendeliana autosomica dominante a micobatteriosi da deficit parziale del recettore dell'interferone gamma 2"],"definition":"La suscettibilità mendeliana autosomica dominante (AD) alle malattie micobatteriche (MSMD) da deficit parziale del recettore dell'interferone gamma 2 (IFN-gammaR2) è una variante genetica della MSMD (si veda questo termine), caratterizzata da un deficit parziale di IFN-gammaR2, che provoca una risposta anomala 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 dominante Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële IFNgammaR2-deficiëntie","synonyms":["Autosomaal dominante MSMD door partiële IFNgammaR2-deficiëntie","Autosomaal dominante MSMD door partiële deficiëntie van interferon-gamma receptor 2","Autosomaal dominante Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële deficiëntie van interferon-gamma receptor 2"],"definition":"Een zeldzame, genetische variant van mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD), gekarakteriseerd door een partiële deficiëntie van IFN-gammaR2, wat leidt tot een verstoorde 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 dominante a doenças micobacterianas por deficiência parcial de IFNgamaR2"},"pl":{"name":"Autosomalna dominująca mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru IFNgammaR2","synonyms":["Autosomalna dominująca mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru receptora 2 interferonu gamma","Autosomalna dominująca MSMD z powodu częściowego niedoboru IFNgammaR2","Autosomalna dominująca MSMD z powodu częściowego niedoboru receptora 2 interferonu gamma"]},"cs":{"name":"Autozomálně dominantní genetická vnímavost k mykobakteriální infekci způsobená částečným IFNgammaR2 deficitem","synonyms":["Autozomálně dominantní MSMD způsobená částečným IFNgammaR2 deficitem","Autozomálně dominantní MSMD způsobená částečným deficitem gama receptoru 2 interferonu","Autozomálně dominantní genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem gama receptoru 2 interferonu"]},"uk":{"name":"Аутосомно-домінантна менделівська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту IFNgammaR2","synonyms":["Аутосомно-домінантна менделівська схильність до мікобактеріальних захворювань через частковий дефіцит рецептора гамма-інтерферону 2","Аутосомно-домінантна MSMD внаслідок часткового дефіциту IFNgammaR2","Аутосомно-домінантна MSMD внаслідок часткового дефіциту рецептора гамма-інтерферону 2"],"definition":"A rare, genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."},"zh":{"name":"IFNγR2基因部分缺陷所致孟德尔常染色体显性遗传易感分枝杆菌病","synonyms":["常染色体显性遗传干扰素γ受体2部分缺陷所致易感分枝杆菌病"],"definition":"一种罕见的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γR2部分缺乏，导致对干扰素γ的反应受损，从而导致卡介苗（BCG）和其他环境分枝杆菌（EM）的反复中等程度感染。"},"tr":{"name":"Kısmi IFNgammaR2 eksikliğine bağlı olarak mikobakteriyel hastalıklara otozomal dominant Mendel tipi yatkınlık","synonyms":["Kısmi IFNgammaR2 eksikliğine bağlı otozomal baskın MSMD","Kısmi interferon gama reseptör 2 eksikliğine bağlı otozomal baskın MSMD","Kısmi interferon gama reseptör 2 eksikliğine bağlı olarak mikobakteriyel hastalıklara otozomal dominant Mendelian duyarlılık"]}},"xrefs":[{"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":"0017903","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510875","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":"IFNGR2","name":"interferon gamma receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5440","ensembl":"ENSG00000159128","omim":"147569","loci":["21q22.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_23963039[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}