{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","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-169355/","orphanet_url":"https://www.orpha.net/en/disease/detail/169355","names":{"fr":{"name":"Syndrome de déficit immunitaire avec auto-immunité","synonyms":["Syndrome d'immunodéficience avec auto-immunité"]},"de":{"name":"Immundefekt-Syndrom mit Autoimmunität"},"es":{"name":"Síndrome de inmunodeficiencia con autoinmunidad"},"it":{"name":"Sindrome da immunodeficienza con autoimmunità"},"nl":{"name":"Immuundeficiëntiesyndroom met auto-immuniteit"},"pt":{"name":"Síndrome de imunodeficiência com autoimunidade"},"pl":{"name":"Zespół niedoboru odporności z autoagresją"},"cs":{"name":"Syndromy s imunodeficitem a autoimunitou"},"uk":{"name":"Синдром імунодефіциту з аутоімунними захворюваннями"},"zh":{"name":"自身免疫性免疫缺陷综合征"},"tr":{"name":"Otoimmüniteli immün yetmezlik sendromu"}},"xrefs":[{"source":"ICD-11","code":"4A01.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1902856995"},{"source":"MONDO","code":"15709","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680460","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]},{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]}],"children":[{"orpha":444463,"name":"Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency","type":"Disease"},{"orpha":3261,"name":"Autoimmune lymphoproliferative syndrome","type":"Disease"},{"orpha":436159,"name":"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency","type":"Disease"},{"orpha":275517,"name":"Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency","type":"Disease"},{"orpha":3453,"name":"Autoimmune polyendocrinopathy type 1","type":"Disease"},{"orpha":688594,"name":"Combined immunodeficiency due to RELB deficiency","type":"Disease"},{"orpha":275523,"name":"Dianzani autoimmune lymphoproliferative disease","type":"Disease"},{"orpha":619948,"name":"Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency","type":"Disease"},{"orpha":658946,"name":"Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency","type":"Disease"},{"orpha":306550,"name":"FADD-related immunodeficiency","type":"Disease"},{"orpha":699590,"name":"Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency","type":"Disease"},{"orpha":37042,"name":"Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome","type":"Disease"},{"orpha":169100,"name":"Immunodeficiency due to CD25 deficiency","type":"Disease"},{"orpha":268114,"name":"RAS-associated autoimmune leukoproliferative disease","type":"Disease"},{"orpha":391487,"name":"STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome","type":"Disease"},{"orpha":438159,"name":"STAT3-related early-onset multisystem autoimmune disease","type":"Disease"},{"orpha":228426,"name":"Syndromic multisystem autoimmune disease due to Itch deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}