{"orpha":94075,"name":"Severe immune-mediated enteropathy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autoimmune enteropathy","Immune-mediated protracted diarrhea of infancy"],"definition":"Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-94075/","orphanet_url":"https://www.orpha.net/en/disease/detail/94075","names":{"fr":{"name":"Entéropathie sévère d'origine immunitaire","synonyms":["Diarrhée sévère auto-immune de l'enfant","Entéropathie auto-immune"],"definition":"Groupe de maladies intestinales oscillant entre maladie systémique grave à apparition précoce (IPEX) et maladie gastro-intestinale isolée bénigne. Chez les enfants, les symptômes sont une diarrhée sévère et une déshydratation, ainsi que la présence d'anticorps caractéristiques (anti-entérocytes et anti-cellules caliciformes). Chez les adultes, on observe une diarrhée chronique, une malabsorption et une perte de poids."},"de":{"name":"Enteropathie, immunvermittelte schwere","synonyms":["Autoimmun-Enteropathie","Diarrhoe, autoimmune schwere, des Kindesalters"],"definition":"Die Schwere immunbedingte Enteropathie beschreibt eine Gruppe von intestinalen Störungen, die von schwerer, früh einsetzender systemischer Krankheit (IPEX; s. dort) bis zu milden isolierten gastrointestinalen Störungen reicht. Symptome bei Kindern sind schwere Diarrhoe und Dehydratation und der Nachweis charakteristischer Antikörper (anti-Enterozyten und anti-Goblet-Zellen). Bei Erwachsenen bestehen chronische Diarrhoe, Malabsorption und Gewichtsverlust."},"es":{"name":"Enteropatía grave mediada por el sistema inmunitario","synonyms":["Diarrea inmunomediada prolongada de la infancia","Enteropatía autoinmune"],"definition":"La enteropatía grave de origen inmunitario describe una variedad de enfermedades intestinales que pueden van desde una grave enfermedad sistémica de aparición temprana (IPEX; consulte este término), a una enfermedad leve gastrointestinal aislada. En niños, se manifiesta como diarrea y deshidratación grave en presencia de anticuerpos característicos (células anti-enterocitos y anti-cubiletes) y en adultos como diarrea crónica, malabsorción y pérdida de peso."},"it":{"name":"Diarrea dell'infanzia intrattabile immuno-mediata","synonyms":["Enteropatia autoimmune"],"definition":"L'enteropatia immuno-mediata grave definisce vari disturbi intestinali che possono variare da una malattia sistemica grave ad esordio precoce (IPEX; si veda questo termine) a una malattia gastrointestinale isolata lieve. Nei bambini, si presenta con diarrea e disidratazione grave in presenza di anticorpi caratteristici (anti-enterociti e anti-cellule caliciformi) e, negli adulti, con diarrea cronica, malassorbimento e perdita di peso."},"nl":{"name":"Ernstige immuun-gemedieerde enteropathie","synonyms":["Auto-immune enteropathie","Immuun-gemedieerde aanhoudende diarree in de kinderjaren"],"definition":"Ernstige immuungemedieerde enteropathie beschrijft een waaier van aandoeningen van darm, gaande van ernstige, vroeg optredende systemische ziekte (IPEX) tot een milde geïsoleerde gastro-intestinale ziekte. Bij kinderen manifesteert het zich met ernstige diarree en dehydratie in aanwezigheid van kenmerkende antilichamen (anti-enterocyt en anti-slijmbekercel), en bij volwassenen met chronische diarree, malabsorptie, en gewichtsverlies."},"pt":{"name":"Enteropatia grave imunomediada"},"pl":{"name":"Ciężka enteropatia immunologiczna","synonyms":["Enteropatia autoimmunologiczna","Przewlekła biegunka dziecięca o podłożu immunologicznym"]},"cs":{"name":"Autoimunitní enteropatie","synonyms":["Těžká enteropatie na podkladě imunitní reakce","Protrahovaný průjem kojenců na podkladě imunitní reakce"]},"uk":{"name":"Тяжка імуноопосередкована ентеропатія","synonyms":["Аутоімунна ентеропатія","Імуноопосередкована затяжна діарея немовлят"],"definition":"Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss."},"zh":{"name":"重型免疫相关肠病","synonyms":["免疫介导的婴儿拖延性腹泻"],"definition":"重型免疫介导肠病包含了从重型早发性全身性疾病（IPEX；见该词条）到轻型孤立性胃肠病的一系列肠道疾病。在儿童中，该病表现为严重腹泻和脱水，并伴有抗肠细胞和抗杯状细胞特征性抗体的出现；在成人中，该病表现为慢性腹泻、吸收不良和体重减轻。"},"tr":{"name":"Ağır immün aracılı enteropati","synonyms":["Otoimmün enteropati","Bağışıklık aracılı uzun süreli bebeklik diyare"]}},"xrefs":[{"source":"UMLS","code":"C0341305","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8689","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081456","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[{"orpha":280142,"name":"Combined immunodeficiency due to LCK deficiency","type":"Disease"},{"orpha":572,"name":"Immunodeficiency by defective expression of MHC class II","type":"Disease"},{"orpha":522037,"name":"Primary autoimmune enteropathy","type":"Disease"},{"orpha":522043,"name":"Syndromic autoimmune enteropathy","type":"Clinical group"},{"orpha":397959,"name":"TCR-alpha-beta-positive T-cell deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}