{"orpha":538958,"name":"EBV-induced lymphoproliferative disease due to CD70 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-538958/","orphanet_url":"https://www.orpha.net/en/disease/detail/538958","names":{"fr":{"name":"Maladie lymphoproliférative associée à l'EBV par déficit en CD70","synonyms":["Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine CD70 molecule"],"definition":"Immunodéficience primaire autosomique récessive rare caractérisée par une susceptibilité aux maladies liés au virus d'Epstein-Barr (EBV) (maladies lymphoprolifératives à cellules B, y compris le lymphome de Hodgkin) ainsi que par une dysgammaglobulinémie et des infections récurrentes. Les patients peuvent manifester une fièvre récurrente, une lymphadénopathie, une hépatosplénomégalie, une stomatite de type Behçet, une pharyngite, une amygdalite, une adénite et une encéphalite virale."},"de":{"name":"EBV-induzierte lymphoproliferative Krankheit durch CD70-Mangel","synonyms":["CID durch CD70-Defizienz","CD70-Defekt"],"definition":"Ein autosomal-rezessiver primärer Immundefekt, der durch eine Anfälligkeit für Epstein-Barr-Virus (EBV)-assoziierte Erkrankungen (lymphoproliferative B-Zell-Erkrankungen einschließlich Hodgkin-Lymphom), Dysgammaglobulinämie und rezidivierende Infektionen gekennzeichnet ist. Die Patienten können sich mit rezidivierendem Fieber, Lymphadenopathie, Hepatosplenomegalie, Morbus Behçet, Pharyngitis, Tonsillitis, Adenitis und viraler Enzephalitis vorstellen."},"es":{"name":"Enfermedad linfoproliferativa inducida por EBV por deficiencia de CD70","synonyms":["Enfermedad linfoproliferativa inducida por el virus de Epstein-Barr por deficiencia de CD70"],"definition":"Es una inmunodeficiencia primaria autosómica recesiva poco frecuente caracterizada por la susceptibilidad a los trastornos asociados al virus de Epstein-Barr (VEB) (trastornos linfoproliferativos de células B, incluyendo el linfoma de Hodgkin), así como a la disgammaglobulinemia y a las infecciones recurrentes. Los pacientes pueden presentarse con fiebre recurrente, linfadenopatía, hepatoesplenomegalia, estomatitis de tipo Behçet, faringitis, amigdalitis, adenitis y encefalitis viral."},"it":{"name":"Malattia linfoproliferativa indotta da EBV da deficit di CD70","synonyms":["Malattia linfoproliferativa indotta dal virus di Epstein-Barr da deficit della molecola CD70"],"definition":"Si tratta di un'immunodeficienza primitiva autosomica recessiva rara, caratterizzata dalla suscettibilità alle malattie correlate al virus di Epstein-Barr (EBV), come le malattie linfoproliferative a cellule B (compreso il linfoma di Hodgkin), da disgammaglobulinemia e da infezioni ricorrenti. I pazienti presentano febbre ricorrente, linfoadenopatia, epatosplenomegalia, stomatite simil-Behçet, faringite, tonsillite, adenite ed encefalite virale."},"nl":{"name":"EBV-geïnduceerde lymfoproliferatieve ziekte door CD70-deficiëntie","synonyms":["Door Epstein-Barr-virus geïnduceerde lymfoproliferatieve ziekte door deficiëntie van CD70-molecule"],"definition":"Een zeldzame, autosomaal recessieve, primaire immuundeficiëntie, gekarakteriseerd door susceptibiliteit voor Epstein-Barr virus (EBV)-gerelateerde aandoeningen (B-cel-lymfoproliferatieve aandoeningen waaronder Hodgkin-lymfoom) alsook dysgammaglobulinemie en terugkerende infecties. Patiënten kunnen zich presenteren met terugkerende koorts, lymfadenopathie, hepatosplenomegalie, Behçet-achtige stomatitis, faryngitis, tonsillitis, adenitis, en virale encefalitis."},"pt":{"name":"Imunodeficiência combinada por deficiência de CD70"},"pl":{"name":"Złożony niedobór odporności z powodu deficytu CD70","synonyms":["Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency"]},"cs":{"name":"Závažná kombinovaná imunodeficience způsobená deficitem CD70","synonyms":["SCID způsobený deficitem CD70"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом CD70","synonyms":["КІД через дефіцит CD70"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis."},"zh":{"name":"CD70基因缺陷诱导的联合免疫缺陷","synonyms":["CID due to CD70 deficiency"],"definition":"一种罕见的常染色体隐性原发性免疫缺陷，其特点是易患与EB病毒（EBV）相关的疾病（包括霍奇金淋巴瘤在内的B淋巴细胞增生性疾病）以及丙种球蛋白血症和反复感染。患者可出现反复发热、淋巴结病、肝脾肿大、Behþet样口炎、咽炎、扁桃体炎、腺炎和病毒性脑炎。"},"tr":{"name":"CD70 eksikliğine bağlı kombine immün yetmezlik","synonyms":["CD70 eksikliğine bağlı CID"]}},"xrefs":[{"source":"OMIM","code":"618261","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034054","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"34054","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568559","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":664456,"name":"Immune dysregulation disease with immunodeficiency associated with EBV susceptibility","classifications":[156,195]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]},{"orpha":480549,"name":"Non-severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"CD70","name":"CD70 molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28011863[PMID]_28011864[PMID]_29434583[PMID]","hgnc":"11937","ensembl":"ENSG00000125726","omim":"602840","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"29942301[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29942301[PMID]"}],"phenotypes":null}