{"orpha":664456,"name":"Immune dysregulation disease with immunodeficiency associated with EBV susceptibility","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-664456/","orphanet_url":"https://www.orpha.net/en/disease/detail/664456","names":{"fr":{"name":"Maladie avec dérèglement et déficit immunitaire associée à une susceptibilité à l'EBV","synonyms":["Maladie avec dérèglement et déficit immunitaire associée à une susceptibilité au virus Epstein-Barr"]},"de":{"name":"Immundysregulation mit Immundefekt und assoziierter EBV-Suszeptibilität"},"es":{"name":"Enfermedad de desregulación inmunológica con inmunodeficiencia asociada a susceptibilidad al EBV","synonyms":["Enfermedad de desregulación inmunológica con inmunodeficiencia asociada a susceptibilidad al virus de Epstein-Barr"]},"it":{"name":"Malattia da disregolazione immunitaria con immunodeficienza associata alla suscettibilità all’EBV","synonyms":["Malattia da disregolazione immunitaria con immunodeficienza associata alla suscettibilità al virus di Epstein-Barr"]},"nl":{"name":"Immuundisregulatie met immuundeficiëntie geassocieerd met EBV-susceptibiliteit","synonyms":["Immuundisregulatie met immuundeficiëntie geassocieerd met susceptibiliteit voor Epstein-Barrvirus"]},"pt":{"name":"Doença de imunodesregulação com imunodeficiência associada a suscetibilidade a EBV","synonyms":["Doença de imunodesregulação com imunodeficiência associada a suscetibilidade ao vírus Epstein-Barr"]},"pl":{"name":"Zaburzenia regulacji immunologicznej z niedoborem odporności związane z podatnością na wirus EBV","synonyms":["Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility"]},"cs":{"name":"Imunitní dysregulace s imunodeficiencí spojenou s vnímavostí k EBV","synonyms":["Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility"]},"uk":{"name":"Захворювання імунної дисрегуляції з імунодефіцитом, повязаним із сприйнятливістю до EBV","synonyms":["Захворювання імунної дисрегуляції з імунодефіцитом, повязаним із сприйнятливістю до вірусу Епштейна-Барр"]}},"xrefs":[{"source":"UMLS","code":"C5925056","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169361,"name":"Immune dysregulation disease with immunodeficiency","classifications":[156,195]}],"children":[{"orpha":538963,"name":"Combined immunodeficiency due to ITK deficiency","type":"Disease"},{"orpha":664734,"name":"EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature","type":"Clinical group"},{"orpha":542301,"name":"EBV-induced lymphoproliferative disease due to CARMIL2 deficiency","type":"Disease"},{"orpha":664726,"name":"EBV-induced lymphoproliferative disease due to CD137 deficiency","type":"Disease"},{"orpha":538958,"name":"EBV-induced lymphoproliferative disease due to CD70 deficiency","type":"Disease"},{"orpha":420573,"name":"EBV-induced lymphoproliferative disease due to CTPS1 deficiency","type":"Disease"},{"orpha":664711,"name":"EBV-induced lymphoproliferative disease due to PRKCD deficiency","type":"Disease"},{"orpha":664699,"name":"EBV-induced lymphoproliferative disease due to RASGRP1 deficiency","type":"Disease"},{"orpha":664729,"name":"EBV-induced lymphoproliferative disease due to TET2 deficiency","type":"Disease"},{"orpha":317476,"name":"XMEN","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}