{"orpha":169361,"name":"Immune dysregulation disease with immunodeficiency","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-169361/","orphanet_url":"https://www.orpha.net/en/disease/detail/169361","names":{"fr":{"name":"Maladie avec dérèglement et déficit immunitaire","synonyms":["Maladie avec dérèglement immunitaire avec immunodéficience"]},"de":{"name":"Immundysregulation mit Immundefekt"},"es":{"name":"Enfermedad de desregulación inmunológica con inmunodeficiencia"},"it":{"name":"Malattia da disregolazione immunitaria con immunodeficienza"},"nl":{"name":"Immuundisregulatie met immuundeficiëntie"},"pt":{"name":"Doença de imunodesregulação com imunodeficiência"},"pl":{"name":"Zaburzenie funkcjonowania układu immunologicznego z niedoborem odporności"},"cs":{"name":"Syndrom imunitní dysregulace s imunodeficiencí"},"uk":{"name":"Захворювання імунної дисрегуляції з імунодефіцитом"},"zh":{"name":"免疫失调伴免疫缺陷"},"tr":{"name":"İmmün yetmezlik ile seyreden immün düzensizlik hastalığı"}},"xrefs":[{"source":"MONDO","code":"15710","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680458","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":454872,"name":"OBSOLETE: Type 1 interferonopathy with immunodeficiency","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":179006,"name":"Primary immunodeficiency due to a defect in adaptive immunity","classifications":[156,195]}],"children":[{"orpha":714477,"name":"Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome","type":"Disease"},{"orpha":664456,"name":"Immune dysregulation disease with immunodeficiency associated with EBV susceptibility","type":"Clinical group"},{"orpha":529974,"name":"Immune dysregulation with inflammatory bowel disease","type":"Category"},{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","type":"Category"},{"orpha":714496,"name":"Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome","type":"Disease"},{"orpha":714423,"name":"Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome","type":"Disease"},{"orpha":714472,"name":"Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome","type":"Disease"},{"orpha":696874,"name":"NFKB1-related immune dysregulation","type":"Disease"},{"orpha":158038,"name":"Primary hemophagocytic lymphohistiocytosis","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}