{"orpha":522037,"name":"Primary autoimmune enteropathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare intestinal disease characterized by immune-mediated injury of the intestinal mucosa, leading to severe, chronic, intractable diarrhea, malabsorption, and severe weight loss or failure to thrive. Characteristic histologic findings in the small intestine include partial or complete blunting of the villi, deep crypt lymphocytosis, increased crypt apoptosis, and minimal surface intraepithelial lymphocytosis. In addition, the stomach, colon, and esophagus may also be involved. Circulating autoantibodies against enterocytes and/or goblet cells are found in many, but not all, patients. The diagnosis requires exclusion of other causes of villous atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-522037/","orphanet_url":"https://www.orpha.net/en/disease/detail/522037","names":{"fr":{"name":"Entéropathie autoimmune primitive","definition":"Maladie intestinale rare caractérisée par une lésion à médiation immunitaire de la muqueuse intestinale, entraînant une diarrhée sévère, chronique et intraitable, une malabsorption et une perte de poids importante ou un retard de croissance staturo-pondérale. Les caractéristiques histopathologiques de l'intestin grêle sont un émoussement partiel ou complet des villosités, une lymphocytose profonde de la crypte, une apoptose accrue de la crypte et une lymphocytose intra-épithéliale de surface minime. La maladie peut par ailleurs affecter l'estomac, le côlon et l'oesophage. Des auto-anticorps circulants dirigés contre les entérocytes et/ou des cellules en gobelet sont identifiés chez de nombreux patients, mais pas tous. Le diagnostic nécessite d'écarter les autres causes d'atrophie villositaire."},"de":{"name":"Autoimmun-Enteropathie, primäre","definition":"Eine seltene Darmerkrankung, die durch eine immunvermittelte Schädigung der Darmschleimhaut gekennzeichnet ist und zu schweren, chronischen, hartnäckigen Durchfällen, Malabsorption und starkem Gewichtsverlust oder Gedeihstörungen führt. Zu den charakteristischen histologischen Befunden im Dünndarm gehören eine teilweise oder vollständige Abstumpfung der Zotten, eine tiefe Lymphozytose in der Krypta, eine erhöhte Apoptose in der Krypta und eine minimale intraepitheliale Lymphozytose an der Oberfläche. Darüber hinaus können auch der Magen, der Dickdarm und die Speiseröhre betroffen sein. Zirkulierende Autoantikörper gegen Enterozyten und/oder Becherzellen finden sich bei vielen, aber nicht bei allen Patienten. Die Diagnose erfordert den Ausschluss anderer Ursachen für die Zottenatrophie."},"es":{"name":"Enteropatía autoinmune primaria","definition":"Es una enfermedad intestinal poco frecuente caracterizada por una lesión de la mucosa intestinal mediada por el sistema inmunitario, que produce diarrea grave, crónica e intratable, malabsorción y pérdida de peso grave o fallo de medro. Los hallazgos histológicos característicos del intestino delgado incluyen atrofia parcial o completa de las vellosidades, linfocitosis profunda de las criptas, aumento de la apoptosis de las criptas y linfocitosis intraepitelial superficial mínima. Además, también pueden verse afectados el estómago, el colon y el esófago. Los autoanticuerpos circulantes contra los enterocitos y/o las células caliciformes están presentes en la mayoría de los pacientes. El diagnóstico requiere la exclusión de otras causas de atrofia de las vellosidades."},"it":{"name":"Enteropatia autoimmune primitiva","definition":"Si tratta di una malattia intestinale rara, caratterizzata da un danno immunomediato della mucosa intestinale, che causa diarrea grave, cronica e non trattabile, malassorbimento e marcata perdita di peso o ritardo della crescita. L'esame istologico dell'intestino tenue evidenzia l'atrofia parziale o completa dei villi, la linfocitosi nel fondo della cripta, l'aumento dell'apoptosi della cripta e una minima linfocitosi intraepiteliale superficiale. La malattia può interessare anche lo stomaco, il colon e l'esofago. Molti pazienti presentano autoanticorpi circolanti diretti contro gli enterociti e/o le cellule caliciformi. La diagnosi si basa sull'esclusione delle altre cause di atrofia dei villi."},"nl":{"name":"Primaire auto-immune enteropathie","definition":"Een zeldzame aandoening van darm, gekarakteriseerd door immuungemedieerd letsel van darmslijmvlies, wat leidt tot ernstige, chronische, refractaire diarree, malabsorptie, en ernstig gewichtsverlies of groeifalen. Kenmerkende histologische bevindingen van dunne darm zijn onder meer gedeeltelijk of volledig afgestompte villi, ernstige lymfocytose van crypten, verhoogde apoptose van crypten, en intra-epitheliale lymfocytose van een minimaal oppervlak. Bijkomend kunnen maag, colon, en slokdarm betrokken zijn. Circulerende auto-antilichamen tegen enterocyten en/of slijmbekercellen worden bij vele maar niet alle patiënten aangetroffen. Diagnose vereist uitsluiting van andere oorzaken van villusatrofie."},"pt":{"name":"Enteropatia autoimune primária"},"pl":{"name":"Pierwotna enteropatia autoimmunologiczna"},"cs":{"name":"Primární autoimunitní enteropatie"},"uk":{"name":"Первинна аутоімунна ентеропатія","definition":"A rare intestinal disease characterized by immune-mediated injury of the intestinal mucosa, leading to severe, chronic, intractable diarrhea, malabsorption, and severe weight loss or failure to thrive. Characteristic histologic findings in the small intestine include partial or complete blunting of the villi, deep crypt lymphocytosis, increased crypt apoptosis, and minimal surface intraepithelial lymphocytosis. In addition, the stomach, colon, and esophagus may also be involved. Circulating autoantibodies against enterocytes and/or goblet cells are found in many, but not all, patients. The diagnosis requires exclusion of other causes of villous atrophy."},"zh":{"name":"原发性自身免疫性肠病"},"tr":{"name":"Primer otoimmün enteropati"}},"xrefs":[{"source":"ICD-10","code":"K90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA96.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0033862","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681441","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":73014,"name":"Intractable diarrhea of infancy","classifications":[152,233]},{"orpha":94075,"name":"Severe immune-mediated enteropathy","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}