{"orpha":319547,"name":"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSMD due to complete IFNgammaR2 deficiency","MSMD due to complete interferon gamma receptor 2 deficiency","Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319547/","orphanet_url":"https://www.orpha.net/en/disease/detail/319547","names":{"fr":{"name":"Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IFNgammaR2","synonyms":["MSMD par déficit complet en IFNgammaR2","MSMD par déficit complet en récepteur 2 de l'interféron gamma","Prédisposition mendélienne aux infections mycobactériennes par déficit complet en récepteur 2 de l'interféron gamma"],"definition":"La prédisposition mendélienne aux infections mycobactériennes (PMIM) par déficit complet en IFN-gammaR2 est une variante génétique de la PMIM caractérisée par un déficit complet en IFN-gammaR2 entraînant une réponse indétectable à l'IFN-gamma et des infections sévères et souvent fatales à bacille de Calmette-Guérin (BCG) et à d'autres mycobactéries environnementales (ME)."},"de":{"name":"Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R2-Defekt","synonyms":["MSMD durch kompletten IFNgammaR2-Defekt","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Interferon gamma-Rezeptor 2-Mangel"],"definition":"Die Suszeptibilität für Mykobakteriosen (MSMD) durch kompletten Defekt des Interferon-gamma-Rezeptors 2 (IFN-gammaR2) ist eine genetische Variante des MSMD (siehe dort). Die Folge des vollständigen IFN-gammaR2-Mangels mit nicht messbarer IFN-gamma-Antwort sind schwere und oft tödliche Infektionen mit Bazillus Calmette-Guérin (BCG) und anderen Mykobakterien aus der Umwelt (EM)."},"es":{"name":"Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del IFNgammaR2","synonyms":["MSMD por deficiencia completa del IFNgammaR2","MSMD por deficiencia completa del receptor 2 del interferón-gamma","Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del receptor 2 del interferón-gamma"],"definition":"La susceptibilidad mendeliana a enfermedades por micobacterias (MSMD) por déficit completo del receptor 2 del interferón-gamma (IFN-gammaR2) es una variante genética de la MSMD (consulte este término), que se caracteriza por un déficit completo en el IFN-gammaR2, que da lugar a una respuesta indetectable al IFN-gammaR2 y, en consecuencia, a infecciones graves y a menudo letales con el bacilo Calmette-Guérin (BCG) y otras micobacterias ambientales (EM)."},"it":{"name":"Suscettibilità mendeliana a malattie micobatteriche da deficit completo di IFNgammaR2","synonyms":["MSMD da deficit completo del recettore dell'interferone gamma 2","MSMD da deficit completo di IFNgammaR2","Suscettibilità mendeliana a malattie micobatteriche da deficit completo del recettore dell'interferone gamma 2"],"definition":"La suscettibilità mendeliana alle malattie micobatteriche (MSMD) da deficit completo del recettore dell'interferone gamma 2 (IFN-gammaR2) è una variante genetica della MSMD (si veda questo termine), caratterizzata da un deficit completo di IFN-gammaR2, che provoca una risposta non rilevabile all'IFN-gamma, e, di conseguenza, infezioni gravi e spesso letali da parte del bacillo di Calmette-Guérin (BCG) e di altri micobatteri ambientali (EM)."},"nl":{"name":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IFNgammaR2-deficiëntie","synonyms":["MSMD door volledige IFNgammaR2-deficiëntie","MSMD door volledige interferon-gamma receptor 2-deficiëntie","Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige interferon-gamma receptor 2-deficiëntie"],"definition":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD) door volledige interferon gamma receptor 2 (IFNgammaR2)-deficiëntie is een genetische variant van MSMD (zie deze term) die wordt gekarakteriseerd door complete deficiëntie van IFN-gammaR2, wat leidt tot een niet detecteerbare reactie op IFN-gamma en bijgevolg tot ernstige en vaak fatale infecties met bacillus Calmette-Guérin (BCG) en andere mycobacteriën uit de omgeving (EM)."},"pt":{"name":"Suscetibilidade mendeliana a doenças micobacterianas pora deficiência completa de IFNgamaR2"},"pl":{"name":"Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru IFNgammaR2","synonyms":["Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora 2 dla interferonu gamma","MSMD z powodu całkowitego niedoboru IFNgammaR2","MSMD z powodu całkowitego niedoboru receptora 2 dla interferonu gamma"]},"cs":{"name":"Genetická vnímavost k mykobakteriální infekci způsobená kompletním IFNgammaR2 deficitem","synonyms":["MSMD způsobená kompletním IFNgammaR2 deficitem","MSMD způsobená kompletním deficitem gama receptoru 2 interferonu","Genetická vnímavost k mykobakteriální infekci způsobená kompletním deficitem gama receptoru 2 interferonu"]},"uk":{"name":"Менделевська схильність до мікобактеріальних захворювань внаслідок повного дефіциту IFNgammaR2","synonyms":["Менделіанська сприйнятливість до мікобактеріальних захворювань внаслідок повного дефіциту рецептора гамма-інтерферону 2","MSMD внаслідок повного дефіциту IFNgammaR2","MSMD внаслідок повного дефіциту рецептора гамма-інтерферону 2"],"definition":"Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."},"zh":{"name":"IFN-γR2完全缺陷所致孟德尔遗传易感分枝杆菌病","synonyms":["干扰素γ受体2完全缺陷所致MSMD"],"definition":"干扰素γ受体2 (IFN-γR2)完全缺乏所致孟德尔遗传易感分枝杆菌病(MSMD)是MSMD的一种遗传变异体(见该术语)，其特征是IFN-γR2完全缺乏，导致对IFN-γ反应检测不到，并因此造成接种卡介苗(BCG)和感染其他环境分枝杆菌(EM)后的严重且通常致命的后果。"},"tr":{"name":"Tam IFNgammaR2 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık","synonyms":["Tam interferon gama reseptörü 2 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel duyarlılığı","Tam IFNgammaR2 eksikliğine bağlı MSMD","Tam interferon gama reseptörü 2 eksikliğine bağlı MSMD"]}},"xrefs":[{"source":"OMIM","code":"614889","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":"1205947530"},{"source":"MONDO","code":"0017900","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303071","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":319535,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete 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 recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"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}