{"orpha":319535,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal recessive MSMD due to a complete deficiency"],"definition":"A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319535/","orphanet_url":"https://www.orpha.net/en/disease/detail/319535","names":{"fr":{"name":"Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit complet","definition":"La prédisposition mendélienne autosomique récessive (AR) aux infections mycobactériennes (PMIM) par déficit complet décrit un groupe de variantes génétiques de la PMIM comprenant la PMIM par déficit complet en IFN-gammaR1, par déficit complet en IFN-gammaR2, par déficit complet en interleukine 12 sous-unité bêta (IL12B), par déficit complet en IL12RB1, et par déficit complet en ISG15."},"de":{"name":"Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch kompletten Defekt","synonyms":["MSMD durch kompletten Defekt, autosomal-rezessiv","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Mangel, autosomal-rezessiv"]},"es":{"name":"Susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas por deficiencia completa","synonyms":["MSMD autosómica recesiva por deficiencia completa"],"definition":"Es un grupo de variantes genéticas de la susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) que incluyen la MSMD por déficit completo del receptor 1 del interferón-gamma (IFNgammaR1), déficit completo del IFN-gammaR2, déficit completo de la subunidad beta de interleucina 12B (IL12B), déficit completo del receptor de la subunidad beta 1 de la interleucina 12 (IL-12RB1) y déficit completo del ISG15."},"it":{"name":"Suscettibilità mendeliana autosomica recessiva a malattie micobatteriche da deficit completo","synonyms":["MSMD autosomica recessiva da deficit completo"],"definition":"La suscettibilità mendeliana autosomica recessiva (AR) alle malattie micobatteriche (MSMD) da deficit completo definisce un gruppo di varianti genetiche di MSMD (si veda questo termine), che comprende la MSMD da deficit completo del recettore dell'interferone alfa 1 (IFN-gammaR1), il deficit completo di IFN-gammaR2, il deficit completo della subunità beta dell'interleuchina-12 (IL12B), il deficit completo della subunità beta-1 del recettore dell'interleuchina-12 (Il-12RB1) e il deficit completo di ISG15 (si vedano questi termini)."},"nl":{"name":"Autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekten door een volledige deficiëntie","synonyms":["Autosomaal recessieve MSMD door een volledige deficiëntie"],"definition":"Een groep van genetische varianten van mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD), bestaande uit MSMD door volledige interferon gamma receptor-1 (IFNgammaR1)-deficiëntie, volledige interferon gamma receptor-2 (IFNgammaR2)-deficiëntie, volledige interleukine 12 subeenheid bèta (IL12B)-deficiëntie, volledige interleukine 12-receptor subeenheid bèta 1 (IL12RB)-deficiëntie en volledige ISG15-deficiëntie."},"pt":{"name":"Suscetibilidade mendeliana autossómica recessiva a doenças micobacterianas por deficiência completa"},"pl":{"name":"Autosomalna recesywna mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru","synonyms":["Autosomalna recesywna MSMD z powodu całkowitego niedoboru"]},"cs":{"name":"Autozomálně recesivní genetická vnímavost k mykobakteriální infekci způsobená úplným deficitem","synonyms":["Autozomálně recesivní MSMD způsobená úplným deficitem"]},"uk":{"name":"Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань внаслідок повного дефіциту","synonyms":["Аутосомно-рецесивна MSMD внаслідок повного дефіциту"],"definition":"A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency."},"zh":{"name":"完全缺陷所致孟德尔常染色体隐性遗传易感分枝杆菌病","synonyms":["完全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，包括完全性干扰素γ受体1(IFN-γR1)缺乏、完全性干扰素受体γ2缺乏、完全性白细胞介素12β亚单位(IL12B)缺乏、完全性白细胞介素12受体β亚单位1 (IL-12RB1)缺乏和完全性ISG15缺乏引起的MSMD。"},"tr":{"name":"Tam bir eksikliğe bağlı olarak mikobakteriyel hastalıklara otozomal resesif Mendel tipi yatkınlık","synonyms":["Tam bir eksikliğe bağlı otozomal çekinik MSMD"]}},"xrefs":[{"source":"MONDO","code":"17897","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679890","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":686447,"name":"OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":748,"name":"Mendelian susceptibility to mycobacterial diseases","classifications":[156,195]}],"children":[{"orpha":99898,"name":"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency","type":"Disease"},{"orpha":319547,"name":"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency","type":"Disease"},{"orpha":319558,"name":"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency","type":"Disease"},{"orpha":319552,"name":"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency","type":"Disease"},{"orpha":319563,"name":"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency","type":"Disease"},{"orpha":477857,"name":"Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency","type":"Disease"},{"orpha":699618,"name":"Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency","type":"Disease"},{"orpha":699615,"name":"Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 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}