{"orpha":529977,"name":"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-529977/","orphanet_url":"https://www.orpha.net/en/disease/detail/529977","names":{"fr":{"name":"Syndrome de dérèglement immunitaire-maladie inflammatoire de l'intestin-arthrite-infections récurrentes-lymphopénie","definition":"Maladie immunologique rare d'origine génétique caractérisée par des infections bactériennes, virales et fongiques récurrentes, une maladie inflammatoire chronique de l'intestin, une gastrite et une polyarthrite inflammatoire à apparition précoce. Les patients présentent une diarrhée, des vomissements, une hépatosplénomégalie, des aphtes, des abcès périanaux, une maladie pulmonaire chronique avec bronchiectasie et un retard de croissance staturo-pondéral. L'apparition d'une éruption cutanée associée à une vascularite lymphocytaire a également été rapportée. Les anomalies immunologiques sont une lymphopénie à immunodépression variable due à un défaut de production de lymphocytes T, une diminution du nombre de cellules NK et de cellules B avec une hypogammaglobulinémie variable."},"de":{"name":"Immundysregulation-entzündliche Darmerkrankung-Arthritis-rekurrente Infektionen-Lymphopenie","definition":"Eine genetisch bedingter Immundefekt, der durch das frühe Auftreten von wiederkehrenden bakteriellen, viralen und Pilzinfektionen, chronisch entzündlichen Darmerkrankungen, Gastritis und entzündlicher Polyarthritis gekennzeichnet ist. Die Patienten zeigen Durchfall, Erbrechen, Hepatosplenomegalie, Mundgeschwüre, perianale Abszesse, chronische Lungenerkrankungen mit Bronchiektasen und Gedeihstörungen. Es wurde auch über das Auftreten eines Hautausschlags in Verbindung mit lymphozytärer Vaskulitis berichtet. Zu den immunologischen Anomalien gehören variable T-Zell-Lymphopenie, verminderte natürliche Killerzellen und verminderte B-Zellen mit variabler Hypogammaglobulinämie."},"es":{"name":"Síndrome de desregulación inmunológica-enfermedad inflamatoria intestinal-artritis-infecciones recurrentes-linfopenia","definition":"Es una enfermedad inmunitaria de base genética poco frecuente caracterizada por la aparición precoz de infecciones bacterianas, virales y micóticas recurrentes, enfermedad intestinal inflamatoria crónica, gastritis y poliartritis inflamatoria. Los pacientes presentan diarrea, vómitos, hepatoesplenomegalia, úlceras bucales, abscesos perianales, enfermedad pulmonar crónica con bronquiectasias y fallo de medro. También se ha descrito la aparición de una erupción cutánea asociada a vasculitis linfocítica. Las anomalías inmunológicas incluyen linfopenia variable de células T, disminución de células asesinas naturales y disminución de células B con hipogammaglobulinemia variable."},"it":{"name":"Sindrome disregolazione immunitaria - malattia infiammatoria intestinale - artrite - infezioni ricorrenti- linfopenia","definition":"Si tratta di una malattia immunitaria genetica rara, caratterizzata da infezioni batteriche, virali e micotiche ricorrenti ad esordio precoce, malattia infiammatoria intestinale cronica, gastrite e poliartrite infiammatoria. I pazienti presentano diarrea, vomito, epatosplenomegalia, ulcere del cavo orale, ascessi perianali, pneumopatia cronica con bronchiectasie e ritardo dello sviluppo. Sono stati descritti pazienti con eruzioni cutanee associate a vasculite linfocitica. Le anomalie immunologiche comprendono la linfopenia dei linfociti T di gravità variabile, la diminuzione del numero delle cellule natural killer e dei linfociti B con ipogammaglobulinemia di grado variabile."},"nl":{"name":"Immuundisregulatie - inflammatoire darmziekte - artritis - recurrente infecties - lymfopenie-syndroom","definition":"Een zeldzame, genetische immuunziekte, gekarakteriseerd door vroege aanvang van recidiverende bacteriële, virale en fungale infecties, chronische inflammatoire darmziekte, gastritis, en inflammatoire polyartritis. Patiënten presenteren zich met diarree, braken, hepatosplenomegalie, ulcera van mond, perianale abcessen, chronische longziekte met bronchiëctasie, en groeifalen. Aanwezigheid van huiduitslag geassocieerd met lymfocytische vasculitis werd ook reeds gerapporteerd. Immunologische afwijkingen zijn onder meer variabel T-cellymfoom, verminderd aantal 'natural killer'-cellen, en verminderd aantal B-cellen met variabele hypogammaglobulinemie."},"pt":{"name":"Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infeções recorrentes-linfopenia"},"pl":{"name":"Zespół dysregulacji immunologicznej, zapalnej choroby jelita, zapalenia stawów, nawracających infekcji i limfopenii"},"cs":{"name":"Syndrom zahrnující imunitní dysregulaci, zánětlivé onemocnění střev, artritidu, recidivující infekce a lymfopenii"},"uk":{"name":"Синдром імунної дисрегуляції-запальних захворювань кишечника-артриту-рецидивуючих інфекцій-лімфопенії","definition":"A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia."},"zh":{"name":"免疫失调-炎症性肠病-关节炎-复发性感染-淋巴细胞减少综合征"},"tr":{"name":"Bağışıklık düzensizliği-inflamatuar bağırsak hastalığı-artrit-tekrarlayan enfeksiyonlar-lenfopeni sendromu"}},"xrefs":[{"source":"OMIM","code":"618108","qualifier":"E","icd_relation":null,"validated":true},{"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":"0033968","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568533","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]},{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","classifications":[156]},{"orpha":182231,"name":"Rare rheumatologic disease","classifications":[196]}],"children":[],"genes":[{"symbol":"RIPK1","name":"receptor interacting serine/threonine kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30026316[PMID]","hgnc":"10019","ensembl":"ENSG00000137275","omim":"603453","loci":["6p25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"30026316[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30026316[PMID]"}],"phenotypes":null}