{"orpha":317476,"name":"XMEN","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to MAGT1 deficiency","Combined immunodeficiency due to MAGT1 deficiency","X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"],"definition":"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-317476/","orphanet_url":"https://www.orpha.net/en/disease/detail/317476","names":{"fr":{"name":"XMEN","synonyms":["CID par déficit en MAGT1","DIC par déficit en MAGT1","Déficit immunitaire combiné par déficit en MAGT1","Déficit immunitaire lié à l'X avec déficit en magnésium, infection et néoplasie liées à l'EBV","Immunodéficience combinée par déficit en MAGT1","Immunodéficience liée à l'X avec déficit en magnésium, infection et néoplasie liées au virus Epstein-Barr","Immunodéficience liée à l'X avec déficit en magnésium, infection et néoplasie liées à l'EBV"],"definition":"Un déficit immunitaire combiné rare lié aux lymphocytes B et T, caractérisé par des infections récurrentes sino-pulmonaires et virales, une virémie persistante élevée en virus Epstein-Barr (EBV), et une susceptibilité accrue pour les maladies lymphoprolifératives dues aux lymphocytes B et associées à l'EBV. Les analyses immunologiques révèlent un taux lymphocytaire normal ou une lymphopénie légère à modérée, un ratio lymphocytes T CD4/CD8 inversé et des hypogammaglobulinémies."},"de":{"name":"XMEN","synonyms":["CID durch MAGT1-Mangel","Immundefekt, X-chromosomaler, mit Magnesium-Defekt, Epstein-Barr-Virus-Infektion und Neoplasie","Immundefekt, kombinierter, durch MAGT1-Defizienz"]},"es":{"name":"XMEN","synonyms":["CID por deficiencia de MAGT1","Deficiencia de magnesio ligada al cromosoma X con infección por el virus de Epstein-Barr y neoplasia","Inmunodeficiencia combinada por deficiencia de MAGT1","Inmunodeficiencia ligada al cromosoma X con deficiencia de magnesio, infección por el virus de Epstein-Barr y neoplasia"],"definition":"La inmunodeficiencia ligada al cromosoma X con deficiencia de magnesio, infección por el virus de Epstein-Barr y neoplasia, es una inmunodeficiencia combinada de células T y B poco frecuente caracterizada por infecciones sinopulmonares y virales recurrentes, viremia persistente por el virus de Epstein-Barr (EBV) y mayor susceptibilidad a desórdenes linfoproliferativos de células B asociados al virus de Epstein-Barr. Los análisis inmunológicos muestran un recuento normal de linfocitos o linfopenia de leve a moderada, una proporción invertida de células T CD4:CD8 e hipogammaglobulinemia."},"it":{"name":"XMEN","synonyms":["CID da deficit di MAGT1","Immunodeficienza combinata da deficit di MAGT1","Immunodeficienza legata all'X con deficit di magnesio, infezione da virus di Epstein-Barr e neoplasia"],"definition":"L'immunodeficienza legata all'X con deficit di magnesio, infezione da virus di Epstein-Barr e neoplasia è un'immunodeficienza rara combinata delle cellule T e B, caratterizzata da infezioni sinopolmonari e virali ricorrenti, viremia elevata persistente da virus di Epstein-Barr (EBV) e suscettibilità alle malattie linfoproliferative delle cellule B associate ad EBV. Le analisi immunologiche evidenziano un numero normale di linfociti o una linfopenia lieve o moderata, l'inversione del rapporto tra le cellule T CD4:CD8 e ipogammaglobulinemia."},"nl":{"name":"XMEN","synonyms":["CID door MAGT1-deficiëntie","Gecombineerde immuundeficiëntie door MAGT1-deficiëntie","X-gebonden immuundeficiëntie met magnesiumdefect, infectie door Epstein-Barrvirus en neoplasie","XMEN"],"definition":"X-gebonden immuundeficiëntie met magnesiumdefect, infectie met Epstein-Barrvirus en neoplasie is een zeldzame, gecombineerde T- en B-cel immuundeficiëntie die gekarakteriseerd wordt door recurrente sinopulmonale en virale infecties, aanhoudend verhoogde viremie van Epstein-Barrvirus (EBV) en verhoogde vatbaarheid voor EBV-geassocieerde B-cel lymfoproliferatieve stoornissen. Immunologische analyses tonen een normaal aantal lymfocyten of milde tot matige lymfopenie, geïnverteerde CD4:CD8 T-cel ratio en hypogammaglobulinemieën."},"pt":{"name":"XMEN","synonyms":["CID devido à deficiência de MAGT1","Imunodeficiência combinada devido à deficiência MAGT1","Imunodeficiência ligada ao X com defeito de magnésio, infeção pelo virus Epstein-Barr e neoplasia"]},"pl":{"name":"Niedobór odporności sprzężony z chromosomem X z niedoborem magnezu, zakażeniem wirusem Epsteina i Barra i nowotworem","synonyms":["CID z powodu deficytu MAGT1","XMEN","Złożony Niedobór odporności z powodu deficytu MAGT1"],"definition":"*Niedobór odporności sprzężony z chromosomem X z niedoborem magnezu, zakażeniem wirusem Epsteina i Barr i nowotworem jest rzadkim złożonym niedoborem odporności związanym z limfocytami T i B, który charakteryzuje się nawracającymi wirusowymi infekcjami zatok i płuc, uporczywie podwyższoną wiremią w przebiegu zakażenia wirusem Epsteina i Barr (EBV) i zwiększoną podatnością na wystąpienie zakażenia EBV, lub łagodnej/umiarkowanej limfopenii, odwróconym stosunkiem limfocytów T CD4 : CD8 oraz hipogammaglobulinemiami."},"cs":{"name":"X-vázaná imunodeficience s defektem metabolismu hořčíku, infekcí virem Epstein-Barrové a neopláziemi","synonyms":["XMEN","CID způsobená deficitem MAGT1","Kombinovaná imunodeficience způsobená deficitem MAGT1"]},"uk":{"name":"XMEN","synonyms":["КІД внаслідок дефіциту MAGT1","Комбінований імунодефіцит внаслідок дефіциту MAGT1","Х-зчеплений імунодефіцит з дефіцитом магнію, інфекцією вірусу Епштейна-Барр та новоутвореннями"],"definition":"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias."},"zh":{"name":"镁缺乏、EB病毒感染及肿瘤的X染色体连锁免疫缺陷病","synonyms":["MAGT1基因缺陷所致联合免疫缺陷"],"definition":"伴有镁缺陷、Epstein-Barr病毒感染和肿瘤形成的X-连锁免疫缺陷是一种罕见的T细胞和B细胞联合免疫缺陷，其特征是反复发生的鼻窦-肺部感染和病毒感染、持续升高的Epstein-Barr病毒（EBV）病毒血症和对EBV相关B细胞淋巴增生性疾病的易感性。免疫分析显示淋巴细胞计数正常或轻中度减少，CD4:CD8 T细胞比率倒置和丙种球蛋白血症。"},"tr":{"name":"Magnezyum defekti, Epstein-Barr virüs enfeksiyonu ve neoplazi ile seyreden X'e bağlı immün yetmezlik","synonyms":["XMEN","MAGT1 eksikliğine bağlı CID","MAGT1 eksikliğine bağlı kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"300853","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1892618217"},{"source":"MONDO","code":"0010455","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3275445","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10907","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":"MAGT1","name":"magnesium transporter 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"28880","ensembl":"ENSG00000102158","omim":"300715","loci":["Xq21.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24550228[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24550228[PMID]"}],"phenotypes":null}