{"orpha":238505,"name":"Combined immunodeficiency due to CD27 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive lymphoproliferative disease due to CD27 deficiency","CD27 deficiency"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238505/","orphanet_url":"https://www.orpha.net/en/disease/detail/238505","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en CD27","synonyms":["Déficit en CD27","Immunodéficience combinée par déficit en CD27","Maladie lymphoproliférative autosomique récessive par déficit en CD27"],"definition":"Immunodéficience primaire autosomique récessive rare caractérisée par des maladies lymphoprolifératives causées par le virus d'Epstein-Barr (EBV), telles que la prolifération maligne des cellules B, le lymphome de Hodgkin, le lymphome à cellules B et la lymphohistiocytose hémophagocytaire (HLH) induite par l'EBV. On observe également une anémie aplasique et des maladies inflammatoires telles que l'uvéite et les ulcères buccaux."},"de":{"name":"Immundefekt, kombinierter, durch CD27-Mangel","synonyms":["CD27-Defizienz","CD27-Mangel","Lymphoproliferative Krankheit, autosomal-rezessive, durch CD27-Mangel"],"definition":"Ein autosomal-rezessiver primärer Immundefekt, der durch Epstein-Barr-Virus (EBV)-getriggerte lymphoproliferative Störungen wie maligne B-Zell-Proliferation, Hodgkin-Lymphom, B-Zell-Lymphom und EBV-bedingte hämophagozytische Lymphohistiozytose (HLH) gekennzeichnet ist. Aplastische Anämie und entzündliche Erkrankungen wie Uveitis und Mundgeschwüre werden ebenfalls beobachtet."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de CD27","synonyms":["Deficiencia de CD27","Enfermedad linfoproliferativa autosómica recesiva"],"definition":"Es una inmunodeficiencia primaria autosómica recesiva poco frecuente caracterizada por unos trastornos linfoproliferativos desencadenados por el virus de Epstein-Barr (VEB), tales como la proliferación de células B malignas, el linfoma de Hodgkin, el linfoma de células B y la linfohistiocitosis hemofagocítica (HLH) secundaria a VEB. También se observa anemia aplásica y trastornos inflamatorios tales como uveítis y úlceras bucales."},"it":{"name":"Immunodeficienza combinata da deficit di CD27","synonyms":["Deficit di CD27"],"definition":"Si tratta di un'immunodeficienza primitiva autosomica recessiva rara, caratterizzata da malattie linfoproliferative scatenate dal virus di Epstein-Barr (EBV), come la proliferazione di cellule B maligne, il linfoma di Hodgkin, il linfoma a cellule B e la linfoistiocitosi emofagocitica (HLH) provocata dal virus EBV. Può associarsi all'anemia aplastica e alle malattie infettive come l'uveite e le ulcere orali."},"nl":{"name":"Gecombineerde immuundeficiëntie door deficiëntie van CD27","synonyms":["Autosomaal recessieve lymfoproliferatieve ziekte door deficiëntie van CD27","CD27-deficiëntie"],"definition":"Een zeldzame, autosomaal recessieve, primaire immuundeficiëntie, gekarakteriseerd door lymfoproliferatieve aandoeningen uitgelokt door Epstein-Barr virus (EBV), zoals proliferatie van maligne B-cellen, Hodgkin-lymfoom, B-cellymfoom, en EBV-geassocieerde hemofagocytaire lymfohistiocytose (HLH). Aplastische anemie en inflammatoire aandoeningen zoals uveïtis en orale ulcera worden ook waargenomen."},"pt":{"name":"Imunideficiência combinada por deficiência de CD27","synonyms":["Doença linfoproliferativa autossómica recessiva"]},"pl":{"name":"Autosomalna recesywna choroba limfoproliferacyjna","synonyms":["Autosomal recessive lymphoproliferative disease due to CD27 deficiency","CD27 deficiency"]},"cs":{"name":"Autozomálně recesivní lymfoproliferativní nemoc","synonyms":["CD27 deficit"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом CD27","synonyms":["Аутосомно-рецесивне лімфопроліферативне захворювання, зумовлене дефіцитом CD27","Дефіцит CD27"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed."},"zh":{"name":"CD27基因缺陷所致联合免疫缺陷","synonyms":["CD27缺乏所致常染色体隐性遗传性淋巴组织增生性疾病"],"definition":"一种罕见的常染色体隐性遗传的原发性免疫缺陷，其特征是EBV引起的淋巴增生性疾病，如恶性B细胞增殖、霍奇金淋巴瘤、B细胞淋巴瘤和EBV引发的嗜血细胞性淋巴组织细胞增多症（HLH）。也可见再生障碍性贫血和炎症性疾病，如葡萄膜炎和口腔溃疡。"},"tr":{"name":"CD27 eksikliğine bağlı kombine immün yetmezlik","synonyms":["CD27 eksikliği","CD27 eksikliğine bağlı otozomal çekinik lenfoproliferatif hastalık"]}},"xrefs":[{"source":"OMIM","code":"615122","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D47.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C3554540","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":664734,"name":"EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature","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":"CD27","name":"CD27 molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22197273[PMID]","hgnc":"11922","ensembl":"ENSG00000139193","omim":"186711","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"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}