{"orpha":238569,"name":"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IL10-related early-onset IBD","IL10-related early-onset inflammatory bowel disease"],"definition":"A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238569/","orphanet_url":"https://www.orpha.net/en/disease/detail/238569","names":{"fr":{"name":"Syndrome de dérèglement immunitaire-maladie inflammatoire de l'intestin-arthrite-infections récurrentes","synonyms":["Maladie inflammatoire de l'intestin précoce associée à IL10"],"definition":"Maladie immunologique rare d'origine génétique caractérisée par l'apparition précoce d'infections bactériennes, virales et fongiques récurrentes, d'une maladie inflammatoire chronique de l'intestin, d'une gastrite et d'une polyarthrite inflammatoire. Les patients présentent des diarrhées, des vomissements, une hépatosplénomégalie, des aphtes, des abcès périanaux, une maladie pulmonaire chronique avec bronchectasie et un retard de croissance staturo-pondérale. Une éruption cutanée associée à une vascularite lymphocytaire a également été rapportée. Les anomalies immunologiques comprennent une lymphopénie variable des lymphocytes T, une diminution des cellules tueuses naturelles et une diminution des lymphocytes B avec une hypogammaglobulinémie variable."},"de":{"name":"Immun-Dysregulation-inflammatorische Darmerkrankung-Arthritis-rezidivierende Infekte-Syndrom","synonyms":["Darmerkrankung, chronisch-entzündliche, früh-beginnende, IL10-assoziierte","IL10-abhängige früh-beginnende IBD"]},"es":{"name":"Síndrome de desregulación inmunológica-enfermedad inflamatoria intestinal-artritis-infecciones recurrentes","synonyms":["EII de inicio precoz asociada a IL10","Enfermedad inflamatoria intestinal de inicio precoz asociada a IL10","Enfermedad inflamatoria intestinal de inicio temprano asociada a IL10"],"definition":"Es una enfermedad poco frecuente de disregulación inmunológica con inmunodeficiencia, caracterizada por enfermedad intestinal inflamatoria grave y progresiva de inicio en la lactancia con pancolitis, enfermedad perianal (úlceras, fístulas), infecciones respiratorias, genitourinarias y cutáneas recurrentes, así como artritis y un riesgo elevado de linfoma de células B."},"it":{"name":"Sindrome da anomalie immunologiche, malattia infiammatoria dell'intestino, artrite e infezioni ricorrenti","synonyms":["IBD autosomica recessiva a esordio precoce"],"definition":"La sindrome che associa anomalie immunologiche, malattia infiammatoria dell'intestino, artrite ed infezioni ricorrenti è una malattia rara da immunodeficienza caratterizzata da malattia intestinale infiammatoria progressiva ad esordio neonatale, associata a pancolite, lesioni perianali (ulcere, fistole), infezioni respiratorie, genito-urinarie e cutanee ricorrenti, artrite e rischio di linfoma a cellule B."},"nl":{"name":"Immuundisregulatie - inflammatoire darmziekte - artritis - recidiverende infecties-syndroom","synonyms":["IL10-gerelateerde IBD met vroege aanvang","IL10-gerelateerde inflammatoire darmziekte met vroege aanvang"],"definition":"Een zeldzame immuundisregulatie met immuundeficiëntie, gekarakteriseerd door ernstige, progressieve, infantiel aanvangende inflammatoire darmziekte met pancolitis, perianale ziekte (ulceratie, fistels), terugkerende respiratoire, genito-urinaire en cutane infecties, artritis en een hoog risico op B-cellymfoom."},"pt":{"name":"Síndrome de imunodesregulação-doença inflamatória do intestino-artrite-infeções recorrentes","synonyms":["Doença inflamatória do intestino de início precoce autossómica recessiva"]},"pl":{"name":"Zespół zaburzeń immunologicznych, nieswoistego zapalenia jelit, zapalenia stawów i nawracających infekcji","synonyms":["Nieswoiste zapalenie jelit o wczesnym początku zależne od IL10"],"definition":"*Zespół zaburzeń immunologicznych, nieswoistego zapalenia jelit, zapalenia stawów i nawracających infekcji to rzadka choroba spowodowana zaburzeniami regulacji układu odpornościowego. Przebiega z niedoborem odporności, który objawia się postępującą chorobą zapalną jelit z wrzodziejącym zapaleniem całego jelita grubego o początku w okresie niemowlęcym, chorobą okołoodbytniczą (owrzodzenie, przetoki), nawracającymi zakażeniami układu oddechowego, układu moczowo-płciowego i skóry, zapaleniem stawów oraz wiąże się z wysokim ryzykiem wystąpienia chłoniaka z komórek B."},"cs":{"name":"Autozomálně recesivní zánětlivá střevní nemoc s časným nástupem","synonyms":["Autozomálně recesivní IBD s časným nástupem"]},"uk":{"name":"Синдром імунної дисрегуляції-запальних захворювань кишечника-артриту-рецидивуючих інфекцій","synonyms":["IBD з раннім початком, повязаний з IL10","Запальне захворювання кишечника з раннім початком, повязане з IL10"],"definition":"A rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma."},"zh":{"name":"免疫失调性-炎症性肠病-关节炎-反复感染综合征","synonyms":["IL-11相关早发性炎症性肠病"],"definition":"一种罕见的免疫失调性疾病，伴有免疫缺陷，其特征是严重的、进行性的、婴儿期发病的炎症性肠病伴全结肠炎、肛周疾病（溃疡、瘘管）、反复呼吸道泌尿生殖道和皮肤感染、关节炎和高B细胞淋巴瘤发生风险。"},"tr":{"name":"Bağışıklık düzensizliği-inflamatuar bağırsak hastalığı-artrit-tekrarlayan enfeksiyonlar sendromu","synonyms":["IL10-ilişkili erken-başlangıçlı IBD","IL10-ilişkili erken-başlangıçlı inflamatuar bağırsak hastalığı"]}},"xrefs":[{"source":"OMIM","code":"612567","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613148","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K52.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A6Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016542","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749850","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13016","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":619249,"name":"Rare hereditary connective tissue disease","classifications":[156]},{"orpha":182231,"name":"Rare rheumatologic disease","classifications":[196]}],"children":[],"genes":[{"symbol":"IL10","name":"interleukin 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22549091[PMID]","hgnc":"5962","ensembl":"ENSG00000136634","omim":"124092","loci":["1q32.1"]},{"symbol":"IL10RA","name":"interleukin 10 receptor subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22549091[PMID]","hgnc":"5964","ensembl":"ENSG00000110324","omim":"146933","loci":["11q23.3"]},{"symbol":"IL10RB","name":"interleukin 10 receptor subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22549091[PMID]","hgnc":"5965","ensembl":"ENSG00000243646","omim":"123889","loci":["21q22.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"24089328[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}