{"orpha":319539,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal recessive MSMD due to a partial deficiency"],"definition":"A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the <i>IFNGR1</i> and <i>IFNGR2</i> genes which lead to a residual response of IFN-gamma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319539/","orphanet_url":"https://www.orpha.net/en/disease/detail/319539","names":{"fr":{"name":"Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel","definition":"La prédisposition mendélienne autosomique récessive (AR) aux infections mycobactériennes par déficit partiel (PMIM) décrit un groupe de variantes génétiques de la PMIM dues à des mutations autosomiques récessives des gènes <i>IFNGR1</i> et <i>IFNGR2</i> qui entraînent une réponse résiduelle de l'IFN-gamma."},"de":{"name":"Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch partiellen Defekt","synonyms":["MSMD durch partiellen Defekt, autosomal-rezessiv","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partiellem Mangel, autosomal-rezessiv"],"definition":"Die autosomal-rezessiv vererbte Suszeptibilität für Mykobakteriosen (MSMD) mit partiellem Defekt beschreibt eine Gruppe genetischer Varianten der MSMD (siehe dort) mit Mutationen in den Genen IFNGR1oder IFNGR2, die zu verminderter IFN-gamma-Antwort führen."},"es":{"name":"Susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas por deficiencia parcial","synonyms":["MSMD autosómica recesiva por deficiencia parcial"],"definition":"Es un grupo de variantes genéticas de la susceptibilidad mendeliana a enfermedades producidas por micobacterias (MSMD) debido a mutaciones autosómicas recesivas en los genes <i>IFNGR1</i> e <i>IFNGR2</i> que dan lugar a una respuesta residual del IFN-gamma."},"it":{"name":"Suscettibilità mendeliana autosomica recessiva a malattie micobatteriche da deficit parziale","synonyms":["MSMD autosomica recessiva da deficit parziale"],"definition":"La suscettibilità mendeliana autosomica recessiva alle malattie micobatteriche (MSMD) da deficit parziale definisce un gruppo di varianti genetiche di MSMD (si veda questo termine) da mutazioni autosomiche recessive dei geni <i>IFNGR1</i> e <i>IFNGR2</i>, che provocano una risposta residua all'IFN-gamma."},"nl":{"name":"Autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekten door een partiële deficiëntie","synonyms":["Autosomaal recessieve MSMD door een partiële deficiëntie"],"definition":"Een groep van genetische varianten van mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD) als gevolg van autosomaal recessieve mutaties in de genen <i>IFNGR1</i> en <i>IFNGR2</i> die leiden tot een residuele reactie op IFN-gamma."},"pt":{"name":"Suscetibilidade mendeliana autossómica recessiva a doenças micobacterianas por deficiência parcial"},"pl":{"name":"Autosomalna recesywna mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru","synonyms":["Autosomalna recesywna MSMD z powodu częściowego niedoboru"]},"cs":{"name":"Autozomálně recesivní genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem","synonyms":["Autozomálně recesivní MSMD způsobená částečným deficitem"]},"uk":{"name":"Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту","synonyms":["Аутосомно-рецесивна MSMD внаслідок часткового дефіциту"],"definition":"A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the <i>IFNGR1</i> and <i>IFNGR2</i> genes which lead to a residual response of IFN-gamma."},"zh":{"name":"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":["部分缺陷所致常染色体隐性遗传MSMD"],"definition":"一组孟德尔遗传易感分枝杆菌病(MSMD)的遗传变异体，由常染色体隐性 IFNGR1 和IFNGR2基因突变导致的干扰素-γ残留反应引起。"},"tr":{"name":"Kısmi bir eksikliğe bağlı olarak mikobakteriyel hastalıklara otozomal resesif Mendel tipi yatkınlık","synonyms":["Kısmi eksikliğe bağlı otozomal çekinik MSMD"]}},"xrefs":[{"source":"MONDO","code":"17898","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679891","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":748,"name":"Mendelian susceptibility to mycobacterial diseases","classifications":[156,195]}],"children":[{"orpha":319569,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency","type":"Disease"},{"orpha":319574,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency","type":"Disease"},{"orpha":574957,"name":"Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency","type":"Disease"},{"orpha":331226,"name":"Susceptibility to infection due to TYK2 deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}