{"orpha":477857,"name":"Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSMD due to complete RORgamma receptor defiency","Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency","Primary immunodeficiency due to RORC mutation"],"definition":"A rare primary immunodeficiency characterized by increased susceptibility to infections with <i>candida albicans</i> and weakly pathogenic mycobacteria, such as <i>mycobacterium bovis</i>. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477857/","orphanet_url":"https://www.orpha.net/en/disease/detail/477857","names":{"fr":{"name":"Prédisposition mendélienne aux infections mycobactériennes par déficit complet en récepteur RORgamma","synonyms":["Déficit immunitaire primaire dû à une mutation de RORC","Prédisposition mendélienne aux infections mycobactériennes par déficit complet protéine RAR related orphan receptor C","SSMIM par déficit complet en récepteur RORgamma","Syndrome de susceptibilité mendélienne aux infections mycobactériennes sévère par déficit complet en récepteur RORgamma"],"definition":"Déficit immunitaire primaire caractérisé par une sensibilité accrue aux infections à <i>candida albicans</i> et aux mycobactéries faiblement pathogènes, telles que <i>mycobacterium bovis</i>. Les patients manifestent dans l'enfance une candidose cutanéo-muqueuse chronique de sévérité variable, une mycobactériose disséminée, des ganglions lymphatiques axillaires et cervicaux non repérables à la palpation, un thymus de petite taille et une hépatosplénomégalie variable. Le phénotype immunologique comprend une lymphopénie légère des cellules T, l'absence de cellules NKT de type 1 et de cellules T invariantes associées aux muqueuses, et des niveaux bas de cellules lymphoïdes innées de type 3."},"de":{"name":"Suszeptibilität für Mykobakteriosen durch kompletten RORgamma-Rezeptor-Mangel","synonyms":["MSMD durch vollständigen RORgamma-Rezeptor-Mangel","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem RAR-bezogenen Orphan-Rezeptor-C-Mangel","Primärer Immundefekt durch RORC-Genmutation"],"definition":"Ein seltener primärer Immundefekt, der durch eine erhöhte Anfälligkeit für Infektionen mit <i>Candida albicans</i> und schwach pathogenen Mykobakterien, wie <i>Mycobacterium bovis</i>, gekennzeichnet ist. Die Patienten zeigen im Säuglingsalter eine chronische mukokutane Candidose unterschiedlichen Schweregrades, eine disseminierte mykobakterielle Erkrankung, das Fehlen tastbarer axillärer und zervikaler Lymphknoten, eine reduzierte Thymusgröße und eine variable Hepatosplenomegalie. Der immunologische Phänotyp umfasst eine leichte T-Zell-Lymphopenie, das Fehlen von natürlichen Killer-T-Zellen des Typs 1 und von schleimhautassoziierten invarianten T-Zellen sowie geringe Mengen an angeborenen lymphoiden Zellen des Typs 3."},"es":{"name":"Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del receptor RORgamma","synonyms":["Inmunodeficiencia primaria por una mutación en el gen RORC","SMEM por deficiencia completa del receptor RORgamma","Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del receptor huérfano C relacionado con RAR"],"definition":"Es una inmunodeficiencia primaria poco frecuente caracterizada por una mayor susceptibilidad a las infecciones por <i>candida albicans</i> y por micobacterias débilmente patogénicas, tales como <i>mycobacterium bovis</i>. Los pacientes se presentan en la lactancia con candidiasis mucocutánea crónica de gravedad variable, enfermedad micobacteriana diseminada, ausencia de ganglios linfáticos axilares y cervicales palpables, disminución del tamaño del timo y hepatoesplenomegalia de grado variable. El fenotipo inmunológico comprende linfopenia leve de células T, ausencia de células T natural killer de tipo 1 y de células T invariantes asociadas a la mucosa, y unos niveles bajos de células linfoides innatas de tipo 3."},"it":{"name":"Malattia da suscettibilità mendeliana ai micobatteri da deficienza completa del recettore RORgamma","synonyms":["Suscettibilità mendeliana alle malattie micobatteriche da deficit completo del recettore orfano C correlato a RAR","Immunodeficienza primaria da mutazione RORC","MSMD da deficienza completa del recettore RORgamma"],"definition":"Si tratta di un'immunodeficienza primitiva rara, caratterizzata dalla predisposizione alle infezioni da <i>candida albicans</i> e da micobatteri debolmente patogeni, come il <i>mycobacterium bovis</i>. La malattia esordisce durante la prima infanzia con candidiasi muco-cutanea cronica di gravità variabile, malattia micobatterica disseminata, linfonodi ascellari e cervicali non apprezzabili alla palpazione, ipoplasia del timo ed epatosplenomegalia variabile. Il fenotipo immunologico comprende la linfopenia lieve dei linfociti T, l'assenza delle cellule T natural killer tipo 1 e dei linfociti T invarianti associati alla mucosa, e la riduzione delle cellule linfoidi innate di tipo 3."},"nl":{"name":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige deficiëntie van RORgamma-receptor","synonyms":["MSMD door volledige deficiëntie van RORgamma-receptor","Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige deficiëntie van RAR-gerelateerde weesreceptor C","Primaire immuundeficiëntie door RORC-mutatie"],"definition":"Een zeldzame primaire immuundeficiëntie, gekarakteriseerd door verhoogde susceptibiliteit voor infectie met <i>Candida albicans</i> en weinig pathogene mycobacteriën, zoals <i>Mycobacterium bovis</i>. Patiënten presenteren zich in de zuigelingentijd met chronische mucocutane candidiasis met variabele gradaties van ernst, gedissemineerde mycobacteriële ziekte, afwezigheid van palpabele axillaire en cervicale lymfeklieren, gereduceerde omvang van thymus, en variabele hepatosplenomegalie. Het immunologische fenotype omvat milde lymfopenie van T-cellen, afwezigheid van type 1 'natural killer' T-cellen en mucosa-geassocieerde invariante T-cellen, en lage gehaltes van type 3 aangeboren lymfoïde cellen."},"pt":{"name":"Suscetibilidade mendeliana a doenças infeciosas devida a deficiência completa de recetor RORgama autossómica recessiva","synonyms":["Imunodeficiência primária devido a mutação RORC","MSMD devido a deficiência completa de recetor RORgama","Suscetibilidade mendeliana a doenças micobacterianas devido à deficiência completa do recetor C órfão relacionado com o RAR"]},"pl":{"name":"Autosomalna recesywna mendelowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora RORgamma","synonyms":["Autosomalna recesywna MSMD z powodu całkowitego niedoboru receptora RORgamma","Autosomalny recesywny niedobór odporności spowodowany mutacją RORC"]},"cs":{"name":"Autozomálně recesivní náchylnost k mykobateriózám s mendelovskou dědičností z důvodu kompletního RORC deficitu","synonyms":["Autosomal recessive primary immunodeficiency due to RORC mutation","Autosomal recessive MSMD due to complete RORgamma receptor defiency","Autozomálně recesivní primární imunodeficience způsobená mutací RORC","Autozomálně recesivní MSMD způsobená kompletní deficiencí receptoru RORgamma"]},"uk":{"name":"Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань, зумовлена повним дефіцитом рецептора RORgamma","synonyms":["Аутосомно-рецесивна MSMD внаслідок повного дефіциту рецептора RORgamma","Аутосомно-рецесивний первинний імунодефіцит, зумовлений мутацією RORC"],"definition":"A rare primary immunodeficiency characterized by increased susceptibility to infections with <i>candida albicans</i> and weakly pathogenic mycobacteria, such as <i>mycobacterium bovis</i>. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells."},"zh":{"name":"RORγ受体缺陷导致的常染色体隐性遗传的分枝杆菌病易感","synonyms":["RORγ受体完全缺失导致的常染色体隐性遗传的分枝杆菌病易感"]},"tr":{"name":"Tam RORgamma reseptör eksikliğine bağlı olarak mikobakteriyel hastalıklara otozomal resesif Mendel tipi yatkınlık","synonyms":["RORC mutasyonuna bağlı otozomal çekinik primer immün yetmezlik","Tam RAR gama reseptör eksikliğine bağlı otozomal çekinik MSMD"]}},"xrefs":[{"source":"OMIM","code":"616622","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014710","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567647","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":"RORC","name":"RAR related orphan receptor C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26160376[PMID]","hgnc":"10260","ensembl":"ENSG00000143365","omim":"602943","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"26160376[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26160376[PMID]"}],"phenotypes":null}