{"orpha":529980,"name":"Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NFAT5 haploinsufficiency"],"definition":"A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-529980/","orphanet_url":"https://www.orpha.net/en/disease/detail/529980","names":{"fr":{"name":"Syndrome de dérèglement immunitaire-maladie inflammatoire de l'intestin-infections sinopulmonaires récurrentes","synonyms":["Déficit en NFAT5"],"definition":"Maladie immunologique rare, d'origine génétique, caractérisée par des infections sinopulmonaires récurrentes et une entérocolopathie auto-immune se manifestant par des épisodes fréquents de diarrhée réfractaire avec douleurs abdominales et fièvre, accompagnés d'éruptions eczémateuses dues à une déficience du système immunitaire innée et adaptatif. Les anomalies du système immunitaire sont un déficit en sous classes d'immunoglobulines G, une altération de la prolifération des lymphocytes induite par l'antigène, une diminution de la synthèse de cytokines par les lymphocytes T CD8+ et une diminution du nombre de cellules NK."},"de":{"name":"Entzündliche Darmerkrankung-rekurrente sinupulmonale Infektionen-Syndrom","synonyms":["NFAT5-Haploinsuffizienz"],"definition":"Eine seltene genetisch bedingte Immunkrankheit, die durch wiederkehrende sinopulmonale Infektionen und eine autoimmune Enterokolopathie gekennzeichnet ist. Sie äußert sich in häufigen Episoden hartnäckiger Diarrhöe mit Bauchschmerzen und Fieber, begleitet von ekzematösen Ausschlägen, die auf Defizite bei Komponenten der angeborenen und adaptiven Immunität zurückzuführen sind. Zu den immunologischen Anomalien gehören ein Mangel an IgG-Subklassen, eine gestörte antigeninduzierte Lymphozytenproliferation, eine verminderte Zytokinproduktion durch CD8+ T-Lymphozyten und eine verringerte Anzahl natürlicher Killerzellen."},"es":{"name":"Síndrome de desregulación inmunológica-enfermedad inflamatoria intestinal-infecciones sinopulmonares recurrentes","synonyms":["Haploinsuficiencia de NFAT5"],"definition":"Es una enfermedad inmunológica genética y poco frecuente caracterizada por infecciones sinopulmonares recurrentes y enterocolitis autoinmune, que se manifiesta como episodios frecuentes de diarrea intratable con dolor abdominal y fiebre, acompañados de erupciones eccematosas debido a déficits en componentes de la inmunidad innata y adaptativa. Las anomalías inmunológicas incluyen deficiencia de subclases de IgG, trastorno de la proliferación de linfocitos inducida por antígenos, disminución de la producción de citocinas por linfocitos T CD8+ y disminución del número de células asesinas naturales."},"it":{"name":"Sindrome disregolazione immunitaria-malattia infiammatoria intestinale-infezioni sinopolmonari ricorrenti","synonyms":["Aploinsufficienza di NFAT5"],"definition":"Si tratta di una malattia immunitaria genetica rara, caratterizzata da infezioni sinopolmonari ricorrenti ed enterocolopatia autoimmune, che si manifesta con frequenti episodi di diarrea non trattabile associati al dolore addominale e alla febbre, accompagnati da eruzioni eczematose, da deficit delle componenti dell'immunità innata e adattativa. Le anomalie immunologiche comprendono il deficit della sottoclasse delle IgG, la compromissione della proliferazione dei linfociti indotta dagli antigeni, la riduzione della produzione delle citochine da parte dei linfociti T CD8+ e la riduzione del numero delle cellule natural killer."},"nl":{"name":"Immuundisregulatie - inflammatoire darmziekte - recidiverende sinopulmonale infecties-syndroom","synonyms":["NFAT5-haploinsufficiëntie"],"definition":"Een zeldzame, genetische immuunziekte, gekarakteriseerd door recidiverende sinopulmonale infecties en auto-immune enterocolopathie, met frequente episodes van refractaire diarree met abdominale pijn en koorts vergezeld van eczemateuze huiduitslag als manifestatie, veroorzaakt door tekorten aan componenten van aangeboren en adaptief immuunsysteem. Immunologische afwijkingen zijn onder meer deficiëntie van IgG-subklassen, verstoorde door antigeen geïnduceerde proliferatie van lymfocyten, verminderde productie van cytokinen door CD8+ T-lymfocyten, en verlaagd aantal 'natural killer'-cellen."},"pt":{"name":"Síndrome de doença inflamatória do intestino-infeções sinopulmonares recorrentes"},"pl":{"name":"Zaburzenia regulacji układu odpornościowego – nieswoiste zapalenie jelit – zespół nawracających zakażeń zatok i płuc","synonyms":["NFAT5 haploinsufficiency"]},"cs":{"name":"Syndrom zahrnující zánětlivé onemocnění střev a recidivující sinopulmonární infekce","synonyms":["Haploinsuficience NFAT5"]},"uk":{"name":"Синдром запальних захворювань кишечника-рецидивуючих сінолегеневих інфекцій","synonyms":["Гаплонедостатність NFAT5"],"definition":"A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells."},"zh":{"name":"炎症性肠病-复发性窦肺感染综合征","synonyms":["NFAT5单倍剂量不足"]},"tr":{"name":"İnflamatuar bağırsak hastalığı-tekrarlayan sinopulmoner enfeksiyon sendromu","synonyms":["NFAT5 haployetersizlik"]}},"xrefs":[{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0033969","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568532","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":529974,"name":"Immune dysregulation with inflammatory bowel disease","classifications":[152,156,195,233]}],"children":[],"genes":[{"symbol":"NFAT5","name":"nuclear factor of activated T cells 5","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"25667416[PMID]","hgnc":"7774","ensembl":"ENSG00000102908","omim":"604708","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"25667416[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25667416[PMID]"}],"phenotypes":null}