{"orpha":319558,"name":"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSMD due to complete IL12B deficiency","MSMD due to complete interleukin 12B deficiency","Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent <i>Salmonella</i> infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319558/","orphanet_url":"https://www.orpha.net/en/disease/detail/319558","names":{"fr":{"name":"Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IL12B","synonyms":["MSMD par déficit complet en IL12B","MSMD par déficit complet en interleukine 12B","Prédisposition mendélienne aux infections mycobactériennes par déficit complet en interleukine 12B"],"definition":"La prédisposition mendélienne aux infections mycobactériennes (PMIM) par déficit complet en IL12B est une variante génétique de la PMIM caractérisée par des infections modérées au bacille de Calmette-Guérin (BCG) et des infections récurrentes à <i>Salmonella</i>."},"de":{"name":"Suszeptibilität für Mykobakteriosen durch kompletten IL12B-Defekt","synonyms":["MSMD durch kompletten IL12B-Defekt","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Interleukin 12B-Mangel"],"definition":"Die Suszeptibilität für Mykobakteriosen (MSMD) durch vollständigen Mangel der Beta-Untereinheit des Interleukins 12 (IL12B) ist eine genetische Variante des MSMD (siehe dort), mit milden Bazillus Calmette-Guérin (BCG)- und rezidivierenden <i>Salmonella</i>-Infektionen."},"es":{"name":"Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del IL12B","synonyms":["MSMD por deficiencia completa de la interleucina 12B","MSMD por deficiencia completa del IL12B","Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa de la interleucina 12B"],"definition":"La susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) por déficit completo de la subunidad beta de interleucina 12B (IL12B) es una variante genética de la MSMD (consulte este término), que se caracteriza por infecciones leves por el bacilo Calmette-Guérin (BCG) e infecciones recurrentes por <i>Salmonella</i>."},"it":{"name":"Suscettibilità mendeliana a malattie micobatteriche da deficit completo di IL12B","synonyms":["MSMD da deficit completo di IL12B","MSMD da deficit completo di interleuchina 12B","Suscettibilità mendeliana a malattie micobatteriche da deficit completo dell'interleuchina 12B"],"definition":"La suscettibilità mendeliana alle malattie micobatteriche (MSMD) da deficit completo della subunità beta dell'interleuchina-12 è una variante genetica della MSMD (si veda questo termine), caratterizzata da lieve infezioni da bacillo di Calmette-Guérin attenuato (BCG) e da infezioni ricorrenti da <i>Salmonella</i>."},"nl":{"name":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IL12B-deficiëntie","synonyms":["MSMD door volledige IL12B-deficiëntie","MSMD door volledige interleukine 12B-deficiëntie","Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige interleukine 12B-deficiëntie"],"definition":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD) door volledige interleukine 12 subeenheid beta (IL12B)-deficiëntie is een genetische variant van MSMD (zie deze term) die wordt gekarakteriseerd door milde infecties met bacillus Calmette-Guérin (BCG) en terugkerende <i>Salmonella</i> infecties."},"pt":{"name":"Suscetibilidade mendeliana a doenças micobacterianas por deficiência completa de IL12B"},"pl":{"name":"Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru IL12B","synonyms":["Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru interleukiny 12B","MSMD z powodu całkowitego niedoboru IL12B","MSMD z powodu całkowitego niedoboru interleukiny 12B"]},"cs":{"name":"Genetická vnímavost k mykobakteriální infekci způsobená kompletním IL12B1 deficitem","synonyms":["MSMD způsobená kompletním IL12B1 deficitem","MSMD způsobená kompletním deficitem interleukinu 12B","Genetická vnímavost k mykobakteriální infekci způsobená kompletním deficitem interleukinu 12B"]},"uk":{"name":"Менделевська схильність до мікобактеріальних захворювань внаслідок повного дефіциту IL12B","synonyms":["Менделіанська сприйнятливість до мікобактеріальних захворювань внаслідок повного дефіциту інтерлейкіну 12В","MSMD внаслідок повного дефіциту IL12B","MSMD внаслідок повного дефіциту інтерлейкіну 12В"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent <i>Salmonella</i> infections."},"zh":{"name":"IL12B基因完全缺陷所致孟德尔遗传易感分枝杆菌病","synonyms":["白介素12B完全缺陷所致MSMD"],"definition":"白细胞介素-12β亚单位(IL12B)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)，其特征为轻度卡介苗(BCG)感染和复发性沙门氏菌感染。"},"tr":{"name":"Tam IL12B eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık","synonyms":["Tam interlökin 12B eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel duyarlılığı","Tam IL12B eksikliğine bağlı MSMD","Tam interlökin 12B eksikliğine bağlı MSMD"]}},"xrefs":[{"source":"OMIM","code":"614890","qualifier":"E","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":"2009208004"},{"source":"MONDO","code":"0013954","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303665","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":"IL12B","name":"interleukin 12B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5970","ensembl":"ENSG00000113302","omim":"161561","loci":["5q33.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":49.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}