{"orpha":319574,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive MSMD due to partial IFNgammaR2 deficiency","Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency","Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"],"definition":"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, 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-319574/","orphanet_url":"https://www.orpha.net/en/disease/detail/319574","names":{"fr":{"name":"Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel en IFNgammaR2","synonyms":["MSMD autosomique récessive par déficit partiel en IFNgammaR2","MSMD autosomique récessive par déficit partiel en récepteur 2 de l'interféron gamma"],"definition":"La prédisposition mendélienne autosomique récessive (AR) aux infections mycobactériennes (PMIM) par déficit partiel en IFNgammaR2 est une variante génétique de la PMIM caractérisée par un déficit partiel en IFN-gammaR2, 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-R2-Defekt","synonyms":["MSMD durch partiellen IFNgammaR2-Defekt, autosomal-rezessiv","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partiellem IFN-gRezeptor 2-Mangel, autosomal-rezessiv"],"definition":"Die autosomal-rezessiv vererbte Anfälligkeit für Krankheiten durch Mykobakterien (MSMD) aufgrund eines teilweisen IFN-gammaR2-Mangels ist eine genetische Variante des MSMD (siehe dort), mit residueller IFN-gamma-Antwort. Die Folge sind rezidivierend, mäßig schwere Infektionen mit Bazillus Calmette-Guérin (BCG) und Umwelt-Mykobakterien (EM)."},"es":{"name":"Susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas por deficiencia parcial del IFNgammaR2","synonyms":["MSMD autosómica recesiva por deficiencia parcial del IFNgammaR2","MSMD autosómica recesiva por deficiencia parcial del receptor 2 del interferón-gamma"],"definition":"La susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas (MSMD) por déficit parcial del IFNgammaR2 es una variante genética de la MSMD (consulte este término), que se caracteriza por un déficit parcial en el IFN-gammaR2, que conduce a una respuesta residual al IFN-gamma y, en consecuencia, a infecciones recurrentes moderadamente graves con el bacilo Calmette-Guérin (BCG) y otras micobacterias medioambientales (EM)."},"it":{"name":"Suscettibilità mendeliana autosomica recessiva a malattie micobatteriche da deficit parizale di IFNgammaR2","synonyms":["MSMD autosomica recessiva da deficit parziale del recettore dell'interferone gamma 2","MSMD autosomica recessiva da deficit parziale di IFNgammaR2","Suscettibilità mendeliana autosomica recessiva a micobatteriosi da deficit parziale del recettore dell'interferone gamma 2"],"definition":"La suscettibilità mendeliana autosomica recessiva alle malattie micobatteriche (MSMD) da deficit parziale di IFNgammaR2 è una variante genetica della MSMD (si veda questo termine), caratterizzata da un deficit parziale di IFN-gammaR2, 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 IFNgammaR2-deficiëntie","synonyms":["Autosomaal recessieve MSMD door partiële IFNgammaR2-deficiëntie","Autosomaal recessieve MSMD door partiële deficiëntie van interferon-gamma receptor 2","Autosomaal recessieve Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële deficiëntie van interferon-gamma receptor 2"],"definition":"Autosomaal recessieve Mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD) door partiële IFNgammaR2-deficiëntie is een genetische variant van MSMD (zie deze term) die wordt gekarakteriseerd door een partiële deficiëntie van IFN-gammaR2, 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 a doenças micobacterianas por deficiência parcial de IFNgamaR2"},"pl":{"name":"Autosomalna recesywna mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru IFNgammaR2","synonyms":["Autosomalna recesywna mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru receptora 2 interferonu gamma","Autosomalna recesywna MSMD z powodu częściowego niedoboru IFNgammaR2","Autosomalna recesywna MSMD z powodu częściowego niedoboru receptora 2 interferonu gamma"]},"cs":{"name":"Autozomálně recesivní genetická vnímavost k mykobakteriální infekci způsobená částečným IFNgammaR2 deficitem","synonyms":["Autozomálně recesivní MSMD způsobená částečným IFNgammaR2 deficitem","Autozomálně recesivní MSMD způsobená částečným deficitem gama receptoru 2 interferonu","Autozomálně recesivní genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem gama receptoru 2 interferonu"]},"uk":{"name":"Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту IFNgammaR2","synonyms":["Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань через частковий дефіцит рецептора гамма-інтерферону 2","Аутосомно-рецесивна MSMD внаслідок часткового дефіциту IFNgammaR2","Аутосомно-рецесивна MSMD внаслідок часткової недостатності рецептора гамма-інтерферону 2"],"definition":"Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, 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":"IFNγR2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2部分缺陷所致易感分枝杆菌病"],"definition":"IFNγR2部分缺乏所致常染色体隐性孟德尔遗传易感分枝杆菌病(MSMD)是MSMD（见该术语）的一种遗传变异，其特征是IFN-γR2部分缺乏，导致对IFN-γ的残留反应，从而导致卡介苗(BCG)和其他环境分枝杆菌(EM)的复发性、中等程度感染。"},"tr":{"name":"Kısmi IFNgammaR2 eksikliğine bağlı olarak mikobakteriyel hastalıklara otozomal resesif Mendel tipi yatkınlık","synonyms":["Kısmi IFNgammaR2 eksikliğine bağlı otozomal çekinik MSMD","Kısmi interferon gama reseptörü 2 eksikliğine bağlı otozomal çekinik MSMD","Kısmi interferon gama reseptör 2 eksikliğine bağlı olarak mikobakteriyel hastalıklara otozomal çekinik Mendelian duyarlılık"]}},"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":"1886547448"},{"source":"MONDO","code":"0017902","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511098","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":"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"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"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}