{"orpha":99898,"name":"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSMD due to complete IFNgammaR1 deficiency","MSMD due to complete interferon gamma receptor 1 deficiency","Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity 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-99898/","orphanet_url":"https://www.orpha.net/en/disease/detail/99898","names":{"fr":{"name":"Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IFNgammaR1","synonyms":["MSMD par déficit complet en IFNgammaR1","MSMD par déficit complet en récepteur 1 de l'interféron gamma","Prédisposition mendélienne aux infections mycobactériennes par déficit complet en récepteur 1 de l'interféron gamma"],"definition":"La prédisposition mendélienne aux infections mycobactériennes (PMIM) par déficit complet du récepteur 1 de l'interferon gamma (IFN-gammaR1), est une variante génétique de la PMIM caractérisée par un déficit complet en IFN-gammaR1, provoquant un défaut de l'immunité liée à l'IFN-gamma et entraînant des infections à bacille de Calmette-Guérin (BCG) sévères et souvent mortelles, et d'autres infections à mycobactéries environnementales (ME)."},"de":{"name":"Suszeptibilität für Mykobakteriosen durch kompletten IFN-gamma-R1-Defekt","synonyms":["MSMD durch kompletten IFN-gamma-R1-Defekt","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Interferon-Gamma-Rezeptor 1-Mangel"],"definition":"Die monogen vererbte Suszeptibilität für Mykobakteriosen (MSMD) durch vollständigen Mangel des Interferon-gamma-Rezeptors 1 (IFN-gammaR1) ist eine genetische Variante der MSMD (siehe dort). Der vollständige IFN-gammaR1-Mangel beeinträchtigt die IFN-gamma-Immunität mit der Folge schwerer, oft letal verlaufender Infektionen mit dem Bazillus Calmette-Guérin (BCG) und anderen Mykobakterien aus der Umwelt (EM)."},"es":{"name":"Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del IFNgammaR1","definition":"La susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) por déficit completo del receptor 1 del interferón-gamma (IFNgammaR1) es una variante genética de la MSMD (consulte este término), que se caracteriza por un déficit completo en IFNgammaR1, que lleva a la alteración de la inmunidad IFN-gamma y, en consecuencia, a infecciones graves y a menudo letales con el bacilo de Calmette-Guérin (BCG) y otras micobacterias ambientales (EM)."},"it":{"name":"Suscettibilità mendeliana alle malattie micobatteriche da deficit completo di IFNgammaR1","synonyms":["MSMD da deficit completo del recettore dell'interferone gamma 1","MSMD da deficit completo di IFNgammaR1","Suscettibilità mendeliana alle malattie micobatteriche da deficit completo del recettore dell'interferone gamma 1"],"definition":"La suscettibilità mendeliana alle malattie micobatteriche (MSMD) da deficit completo del recettore dell'interferone gamma 1 (IFN-gammaR1) è una variante genetica della MSMD (si veda questo termine), caratterizzata dal deficit completo di IFN-gammaR1, che provoca alterazioni della risposta immunitaria mediata da IFN-gamma e, di conseguenza, infezioni gravi e spesso letali da bacillo di Calmette-Guérin (BCG) e da altri micobatteri ambientali (EM)."},"nl":{"name":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IFNgammaR1-deficiëntie","synonyms":["MSMD door volledige IFNgammaR1-deficiëntie","MSMD door volledige interferon-gamma receptor 1-deficiëntie","Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige interferon-gamma receptor 1-deficiëntie"],"definition":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD) door volledige interferon gamma receptor 1 (IFNgammaR1)-deficiëntie is een genetische variant van MSMD (zie deze term) die wordt gekarakteriseerd door complete deficiëntie van IFN-gammaR1, wat leidt tot verstoorde IFN-gamma immuniteit 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 por deficiência completa de IFNgamaR1","synonyms":["MSMD por deficiência completa de IFNgamaR1","MSMD por deficiência completa de recetor 1 de interferon gama","Suscetibilidade mendeliana a doenças micobacterianas por deficiência completa de recetor 1 de interferon gama"]},"pl":{"name":"Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru IFNgammaR1","synonyms":["Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora 1 interferonu gamma","MSMD z powodu całkowitego niedoboru IFNgammaR1","MSMD z powodu całkowitego niedoboru receptora 1 interferonu gamma"]},"cs":{"name":"Dědičný sklon k mykobakteriálním nemocem způsobený úplným deficitem IFN-gamaR1","synonyms":["MSMD způsobená úplným deficitem IFN-gamaR1","MSMD způsobená úplným deficitem receptoru 1 interferonu gama","Dědičný sklon k mykobakteriálním nemocem způsobený úplným deficitem receptoru 1 interferonu gama"]},"uk":{"name":"Менделевська схильність до мікобактеріальних захворювань внаслідок повного дефіциту IFNgammaR1","synonyms":["Менделіанська сприйнятливість до мікобактеріальних захворювань внаслідок повного дефіциту рецептора гамма-інтерферону 1","MSMD внаслідок повного дефіциту IFNgammaR1","MSMD внаслідок повного дефіциту рецептора гамма-інтерферону 1"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)."},"zh":{"name":"IFN-γR2完全缺乏所致孟德尔遗传易感性分枝杆菌病","synonyms":["干扰素γ受体1完全缺乏所致MSMD"],"definition":"由于完全性干扰素γ受体1(IFN-γR1)缺乏引起的孟德尔人对分枝杆菌病(MSMD)的易感是MSMD的一种遗传变异，其特征是完全缺乏IFN-γR1，导致IFN-γ免疫功能受损，从而导致卡介苗(BCG)和其他环境分枝杆菌(EM)的严重且往往致命的感染。"},"tr":{"name":"Tam IFNgamaR1 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık","synonyms":["Tam interferon gama reseptörü 1 eksikliğine bağlı mikobakteriyel hastalıklara Mendelyen yatkınlık","Tam IFNgammaR1 eksikliğine bağlı MSMD","Tam interferon gama reseptörü 1 eksikliğine bağlı MSMD"]}},"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":"1549705240"},{"source":"MONDO","code":"0020530","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535530","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4011949","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9185","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":"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","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25453225[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":31.0,"area":"Worldwide","status":"Validated","source":"25453225[PMID]"}],"phenotypes":null}