{"orpha":574957,"name":"Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSMD due to partial JAK1 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency"],"definition":"A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections, on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-574957/","orphanet_url":"https://www.orpha.net/en/disease/detail/574957","names":{"fr":{"name":"Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en JAK1","synonyms":["MSMD par déficit partiel en JAK1","Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en protéine Janus kinase 1","SSMIM par déficit partiel en JAK1","Syndrome de susceptibilité mendélienne aux infections mycobactériennes par déficit partiel en JAK1"],"definition":"Déficit immunitaire primaire rare caractérisé par des infections mycobactériennes atypiques récurrentes, accompagnées d'infections virales relativement mineures, sur un fond immunologique d'induction réduite de l'expression des gènes régulés par l'interféron et d'une dérégulation de la production de cytokines, révélées par les tests de laboratoire. L'association avec un retard global de développement et l'apparition de tumeurs malignes non hématopoïétiques à un jeune âge a été décrite."},"de":{"name":"Suszeptibilität für Mykobakteriosen durch partiellen JAK1-Mangel","synonyms":["MSMD durch partiellen JAK1-Mangel","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partieller Januskinase-1-Defizienz"],"definition":"Ein seltener primärer Immundefekt, der durch rezidivierende atypische mykobakterielle Infektionen mit relativ milden viralen Infektionen auf einem immunologischen Hintergrund mit verminderter Induktion der Expression von Interferon-regulierten Genen und dysregulierter Zytokinproduktion gekennzeichnet ist, wie Laboruntersuchungen zeigen. Es wurde über eine allgemeine Entwicklungsverzögerung und das Auftreten nicht-hämatopoetischer Malignome in jungen Jahren berichtet."},"es":{"name":"Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia parcial de JAK1","synonyms":["SMEM por deficiencia parcial de JAK1","Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia parcial de la enzima quinasa Janus 1"],"definition":"Es una inmunodeficiencia primaria poco frecuente caracterizada por infecciones micobacterianas atípicas recurrentes, acompañadas de infecciones virales más leves, en un contexto inmunológico de inducción reducida de la expresión de genes regulados por interferón y de desregulación de la producción de citocinas, según han revelado estudios de laboratorio. También se ha descrito la asociación con retraso del desarrollo global y el desarrollo de neoplasias malignas no hematopoyéticas a una edad temprana."},"it":{"name":"Suscettibilità mendeliana alle malattie micobatteriche da deficit parziale di JAK1","synonyms":["MSMD da deficit parziale di JAK1"]},"nl":{"name":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële JAK1-deficiëntie","synonyms":["MSMD door partiële JAK1-deficiëntie","Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële deficiëntie van Janus kinase 1"],"definition":"Een zeldzame primaire immuundeficiëntie, gekenmerkt door recidiverende atypische mycobacteriële infecties, vergezeld van relatief minieme virale infecties, in een immunologische achtergrond van verminderde inductie van expressie van door interferon gereguleerde genen en ontregelde productie van cytokinen, zoals wordt aangetoond door laboratoriumonderzoek. Er werd reeds associatie gerapporteerd met algehele ontwikkelingsachterstand en optreden van niet-hematopoëtische maligniteit op jonge leeftijd."},"pt":{"name":"Susceptibilidade mendeliana a doenças micobacterianas devida a deficiência parcial de JAK1","synonyms":["MSMD devido a deficiência parcial JAK1","Susceptibilidade mendeliana a doenças micobacterianas devido a deficiência parcial de Janus"],"definition":"Imunodeficiência primária rara caracterizada por infeções micobacterianas atípicas recorrentes, acompanhadas por infeções virais relativamente minor, num contexto imunológico de reduzida indução da expressão de genes regulados pelo interferão e produção desregulada de citoquinas, conforme demonstrado por estudos laboratoriais. Atraso global do desenvolvimento e ocorrência de neoplasias não hematopoiéticas em idade jovem foram reportados em associação."},"pl":{"name":"Autosomalna recesywna mendlowska podatność na zakażenia prątkami/mykobakteryjne z powodu częściowego niedoboru JAK1","synonyms":["MSMD due to partial JAK1 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency"]},"cs":{"name":"Autozomálně recesivní mendeliánská citlivost na mykobakteriální onemocnění způsobená částečným deficitem JAK1","synonyms":["MSMD due to partial JAK1 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency"]},"uk":{"name":"Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань, зумовлена частковим дефіцитом JAK1","synonyms":["Аутосомно-рецесивна MSMD внаслідок часткового дефіциту JAK1"],"definition":"A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections, on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association."},"zh":{"name":"由JAK1基因部分缺陷所致常染色体隐性孟德尔遗传易感性分支杆菌病","synonyms":["Autosomal recessive MSMD due to partial JAK1 deficiency"]},"tr":{"name":"Kısmi JAK1 eksikliğine bağlı olarak mikobakteriyel hastalıklara otozomal resesif Mendel tipi yatkınlık","synonyms":["Kısmi JAK1 eksikliğine bağlı otozomal çekinik MSMD"]}},"xrefs":[{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035548","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680361","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":"JAK1","name":"Janus kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30264912[PMID]","hgnc":"6190","ensembl":"ENSG00000162434","omim":"147795","loci":["1p31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}