{"orpha":464336,"name":"BENTA disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["B-cell expansion with NF-kB and T-cell anergy disease"],"definition":"A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464336/","orphanet_url":"https://www.orpha.net/en/disease/detail/464336","names":{"fr":{"name":"Maladie BENTA","synonyms":["Maladie d'expansion des cellules B et d'anergie des cellules T"],"definition":"Déficit immunitaire primaire rare caractérisé par une lymphadénopathie généralisée, une splénomégalie et une lymphocytose à début infantile, accompagnées d'une expansion polyclonale excessive des lymphocytes B. Les patients présentent des infections récurrentes et un trouble de la réponse immunitaire médiée par les lymphocytes T et les anticorps, en l'absence de manifestations auto-immunes claires. Des cas de tumeurs malignes à cellules B ont été rapportés plus tard au cours de la vie."},"de":{"name":"BENTA-Krankheit","synonyms":["B-Zell-Expansion mit NF-kB- und T-Zell-Anergie-Krankheit"],"definition":"Ein seltener primärer Immundefekt, der sich durch eine im Kindesalter einsetzende generalisierte Lymphadenopathie, Splenomegalie und Lymphozytose mit übermäßiger polyklonaler Vermehrung der B-Zellen auszeichnet. Die Patienten weisen rezidivierende Infektionen und eine beeinträchtigte T-Zell- und Antikörperreaktion auf, während offene Autoimmunmanifestationen in der Regel nicht vorhanden sind. Es wurde über das Auftreten von B-Zell-Malignität in späteren Lebensjahren berichtet."},"es":{"name":"Enfermedad BENTA","synonyms":["Enfermedad de expansión de células B con NT-kB y anergia de células T"],"definition":"Es una inmunodeficiencia primaria poco frecuente caracterizada por el inicio en la infancia de linfadenopatía generalizada, esplenomegalia y linfocitosis, con una expansión policlonal excesiva de células B. Los pacientes presentan infecciones recurrentes y alteración de la respuesta mediada por células T y anticuerpos, mientras que las manifestaciones autoinmunes patentes suelen estar ausentes. Se ha descrito el desarrollo de neoplasias de células B en etapas posteriores de la vida."},"it":{"name":"Malattia BENTA","definition":"Si tratta di un'immunodeficienza primitiva rara, caratterizzata da linfoadenopatia generalizzata ad esordio infantile, splenomegalia e linfocitosi, con un'eccessiva espansione policlonale dei linfociti B. I pazienti presentano infezioni ricorrenti e alterazione della risposta delle cellule T e degli anticorpi, mentre in genere non si osservano sintomi autoimmuni. In età più avanzata, i pazienti possono sviluppare tumori maligni a cellule B."},"nl":{"name":"BENTA-ziekte","synonyms":["B-cel-expansie met NF-kB- en T-cel-anergie-ziekte"],"definition":"Een zeldzame primaire immuundeficiëntie, gekenmerkt door infantiele aanvang van gegeneraliseerde lymfadenopathie, splenomegalie, en lymfocytose, met excessieve polyklonale expansie van B-cellen. Patiënten vertonen recidiverende infecties en verstoorde responsen van T-cellen en antilichamen, terwijl openlijke auto-immune manifestaties meestal afwezig zijn. Optreden van maligniteiten van B-cellen in een latere levensfase werd ook reeds gerapporteerd."},"pt":{"name":"Doença BENTA"},"pl":{"name":"Choroba BENTA","synonyms":["B-cell expansion with NF-kB and T-cell anergy disease"]},"cs":{"name":"BENTA nemoc","synonyms":["B-cell expansion with NF-kB and T-cell anergy disease","Expanze B-buněk s NF-kB a nemocí z anergie T-buněk"]},"uk":{"name":"Хвороба BENTA","synonyms":["Експансія В-клітин з NF-kB та Т-клітинною анергією"],"definition":"A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported."},"zh":{"name":"BENTA疾病","synonyms":["B细胞扩张伴NF-kB和T细胞无反应性疾"]},"tr":{"name":"BENTA hastalığı","synonyms":["NF-kB ve T-hücre anerji hastalığına bağlı B hücre genişlemesi"]}},"xrefs":[{"source":"OMIM","code":"616452","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4B0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014645","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551967","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13339","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":480549,"name":"Non-severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"CARD11","name":"caspase recruitment domain family member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"23129749[PMID]_25352053[PMID]_25930198[PMID]","hgnc":"16393","ensembl":"ENSG00000198286","omim":"607210","loci":["7p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25930198[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"25930198[PMID]"}],"phenotypes":null}