{"orpha":319552,"name":"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSMD due to complete IL12RB1 deficiency","MSMD due to complete interleukin 12 receptor beta 1 deficiency","Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) 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-319552/","orphanet_url":"https://www.orpha.net/en/disease/detail/319552","names":{"fr":{"name":"Prédisposition mendélienne aux infections mycobactériennes par déficit complet en IL12RB1","synonyms":["MSMD par déficit complet en IL12RB1","MSMD par déficit complet en récepteur bêta 1 de l'interleukine 12","Prédisposition mendélienne aux infections mycobactériennes par déficit complet en récepteur bêta 1 de l'interleukine 12"],"definition":"La prédisposition mendélienne aux infections mycobactériennes (PMIM) par déficit complet en récepteur beta 1 de l'interleukine 12 (IL12RB1) est une variante génétique de la PMIM caractérisée par des infections peu sévères à bacille de Calmette-Guérin (BCG) et des infections récurrentes à <i>Salmonella</i>."},"de":{"name":"Suszeptibilität für Mykobakteriosen durch kompletten IL12RB1-Defekt","synonyms":["MSMD durch kompletten IL12RB1-Defekt","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Interleukin 12-Rezeptor beta 1-Mangel"],"definition":"Die Suszeptibilität für Mykobakteriosen (MSMD) durch kompletten Defekt der Beta-1-Untereinheit des Interleukin-12-Rezeptors (IL12RB1) ist eine genetische Variante des MSMD (siehe dort) mit milden Infektionen durch Bazillus Calmette-Guérin (BCG) und rezidivierenden <i>Salmonella</i>-Infektionen."},"es":{"name":"Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del IL12RB1","synonyms":["MSMD por deficiencia completa del IL12RB1","MSMD por deficiencia completa del receptor beta 1 de la interleucina 12","Susceptibilidad mendeliana a la deficiencia del receptor beta 1 de la interleucina 12"],"definition":"La susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) por déficit completo del receptor de la subunidad beta 1 de la interleucina 12 (IL12RB1) 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 IL12RB1","synonyms":["MSMD da deficit completo del recettore beta 1 dell'interleuchina 12","MSMD da deficit completo di IL12RB1","Suscettibilità mendeliana al deficit del recettore beta 1 dell'interleuchina 12"],"definition":"La suscettibilità mendeliana alle malattie micobatteriche (MSMD) da deficit completo del recettore della subunità beta-1 dell'interleuchina-12 (IL12RB1) è una variante genetica della MSMD (si veda questo termine), caratterizzata da infezioni lievi da bacillo di Calmette-Guérin (BCG) e da infezioni ricorrenti da <i>Salmonella</i>."},"nl":{"name":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IL12RB1-deficiëntie","synonyms":["MSMD door interleukine 12-receptor bèta 1-deficiëntie","MSMD door volledige IL12RB1-deficiëntie","Mendeliaanse gevoeligheid door interleukine 12-receptor bèta 1-deficiëntie"],"definition":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD) door volledige interleukine 12-receptor subeenheid beta-1 (IL12RB1)-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 IL12RB1"},"pl":{"name":"Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru IL12RB1","synonyms":["Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora beta 1 dla interleukiny 12","MSMD z powodu całkowitego niedoboru IL12RB1","MSMD z powodu całkowitego niedoboru receptora beta 1 dla interleukiny 12"]},"cs":{"name":"Genetická vnímavost k mykobakteriální infekci způsobená kompletním IL12RB1 deficitem","synonyms":["MSMD způsobená kompletním IL12RB1 deficitem","MSMD způsobená kompletním deficitem receptoru beta 1 interleukinu 12","Genetická vnímavost k mykobakteriální infekci způsobená kompletním deficitem receptoru beta 1 interleukinu 12"]},"uk":{"name":"Менделевська схильність до мікобактеріальних захворювань внаслідок повного дефіциту IL12RB1","synonyms":["Менделевська схильність до дефіциту рецептора бета-1 інтерлейкіну 12","MSMD внаслідок повного дефіциту IL12RB1","MSMD внаслідок повного дефіциту рецептора бета-1 інтерлейкіну 12"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) 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":"IL12RB1基因完全缺陷所致孟德尔遗传易感分枝杆菌病","synonyms":["白介素12受体β1完全缺陷所致孟德尔遗传易感"],"definition":"白细胞介素-12受体亚单位β-1(IL12RB1)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 IL12RB1 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık","synonyms":["Tam IL12RB1 eksikliğine bağlı MSMD","Tam interlökin 12 reseptör beta 1 eksikliğine bağlı MSMD","İnterlökin 12 reseptör beta 1 eksikliğine Mendel duyarlılığı"]}},"xrefs":[{"source":"OMIM","code":"614891","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":"1336901765"},{"source":"MONDO","code":"0013955","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274793","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10984","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":"IL12RB1","name":"interleukin 12 receptor subunit beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5971","ensembl":"ENSG00000096996","omim":"601604","loci":["19p13.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":180.0,"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"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-04","source":"31951326[PMID]_28276206[PMID]_23864330[PMID]","terms":[{"hpo":"HP:0011117","label":"Abnormal circulating interleukin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0020087","label":"BCGosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011274","label":"Recurrent mycobacterial infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032283","label":"Disseminated nontuberculous mycobacterial infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002840","label":"Lymphadenitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005401","label":"Recurrent candida infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005661","label":"Salmonella osteomyelitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007408","label":"Tegumentary leishmaniasis susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032249","label":"Coccidioidomycosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032256","label":"Histoplasmosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002742","label":"Recurrent Klebsiella infections","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0020105","label":"Severe toxoplasmosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200029","label":"Vasculitis in the skin","frequency":"Very rare (<4-1%)","criteria":null}]}}