{"orpha":319605,"name":"X-linked mendelian susceptibility to mycobacterial diseases","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["X-linked MSMD"],"definition":"X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (<i>IKBKG</i>) or the cytochrome b-245, beta polypeptide (<i>CYBB</i>) genes. They are characterized by mycobacterial infections, occuring in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319605/","orphanet_url":"https://www.orpha.net/en/disease/detail/319605","names":{"fr":{"name":"Prédisposition mendélienne liée à l'X aux infections mycobactériennes","synonyms":["MSMD liée à l'X"],"definition":"La prédisposition mendélienne liée à l'X aux infectionsmycobactériennes (PMIM) décrit un groupe de déficits immunitaires dus à des mutations spécifiques de l'inhibiteur du gène amplificateur de la chaîne légère kappa des lymphocytes B, la kinase gamma (<i>IKBKG</i>) ou le gène de la chaîne polypeptidique bêta du cytochrome b-245 (<i>CYBB</i>). Ils se caractérisent par des infections mycobactériennes se déclarant chez les patients de sexe masculin."},"de":{"name":"Suszeptibilität für Mykobakteriosen, X-chromosomal","synonyms":["MSMD, X-chromosomal","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien, X-chromosomal"],"definition":"Die X-chromosomal vererbte (XR) Anfälligkeit für Krankheiten durch Mykobakterien (MSMD; siehe dort) umfasst eine seltene Gruppe von Immundefekten aufgrund spezifischer Mutationen in den Genen: IKBKG (<i>inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma</i>) oder CYBB (Cytochrom b-245, beta Polypeptid). Kennzeichnend sind mykobakterielle Infektionen, die bei männlichen Personen auftreten."},"es":{"name":"Susceptibilidad mendeliana a enfermedades micobacterianas ligada al cromosoma X","synonyms":["MSMD ligada al cromosoma X"],"definition":"La susceptibilidad mendeliana a enfermedades micobacterianas (MSMD; consulte este término) ligada al X (XR) describe un grupo de inmunodeficiencias poco frecuentes causadas por mutaciones específicas en el gen potenciador del inhibidor del polipéptido ligero kappa, gamma quinasa en células B, (<i>IKBKG</i>) o en los genes del citocromo b-245, polipéptido beta (<i>CYBB</i>). Se caracterizan por infecciones micobacterianas, presentes en varones."},"it":{"name":"Suscettibilità mendeliana a malattie micobatteriche legata all'X","synonyms":["MSMD legata all'X"],"definition":"La suscettibilità mendeliana alle malattie micobatteriche (MSMD; si veda questo termine) legata all'X (XR) comprende un gruppo di immunodeficienze rare da mutazioni specifiche dei geni <i>IKBKG</i> (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase Gamma) o <i>CYBB</i> (cytochrome b-245, beta polypeptide), caratterizzate da infezioni micobatteriche nei maschi."},"nl":{"name":"X-gebonden Mendeliaanse gevoeligheid voor mycobacteriële ziekten","synonyms":["X-gebonden MSMD"],"definition":"X-gebonden (XR) Mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD; zie deze term) beschrijft een zeldzame groep van immuundeficiënties die veroorzaakt worden door specifieke mutaties in het <i>inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma</i> (<i>IKBKG</i>) gen of het cytochroom b-245, beta-polypeptide (<i>CYBB</i>) gen. Ze worden gekarakteriseerd door mycobacteriële infecties bij mannen."},"pt":{"name":"Susceptibilidade mendeliana a doenças micobacterianas ligada ao X"},"pl":{"name":"Mendlowska podatność na choroby mykobakteryjne sprzężona z chromosomem X","synonyms":["MSMD sprzężona z chromosomem X"]},"cs":{"name":"X-vázaná genetická vnímavost k mykobakteriální infekci","synonyms":["X-vázaná MSMD"]},"uk":{"name":"Х-зчеплена менделівська схильність до мікобактеріальних захворювань","synonyms":["Х-зчеплена MSMD"],"definition":"X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD; see this term) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (<i>IKBKG</i>) or the cytochrome b-245, beta polypeptide (<i>CYBB</i>) genes. They are characterized by mycobacterial infections, occuring in males."},"zh":{"name":"孟德尔X连锁遗传易感分枝杆菌病","synonyms":["X连锁MSMD"],"definition":"X连锁孟德尔遗传易感分枝杆菌病(MSMD：见该术语)描述了一组罕见的免疫缺陷，这是由于B细胞中κ轻多肽基因增强子抑制剂激酶γ(IKBKG )或细胞色素b-245β多肽(CYBB)基因的特异性突变造成的。其特点是分枝杆菌感染，见于男性。"},"tr":{"name":"Mikobakteriyel hastalıklara X'e bağlı Mendel tipi yatkınlık","synonyms":["X'e bağlı MSMD"]}},"xrefs":[{"source":"OMIM","code":"300645","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":"1185998398"},{"source":"MONDO","code":"0017905","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304413","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":319623,"name":"OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":748,"name":"Mendelian susceptibility to mycobacterial diseases","classifications":[156,195]}],"children":[],"genes":[{"symbol":"CYBB","name":"cytochrome b-245 beta chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21278736[PMID]","hgnc":"2578","ensembl":"ENSG00000165168","omim":"300481","loci":["Xp21.1-p11.4"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"21278736[PMID]_16818673[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21278736[PMID]_16818673[PMID]"}],"phenotypes":null}