{"orpha":324933,"name":"Mixed autoinflammatory and autoimmune syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincally with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324933/","orphanet_url":"https://www.orpha.net/en/disease/detail/324933","names":{"fr":{"name":"Syndrome mixte auto-inflammatoire et auto-immun","definition":"Groupe de maladies systémiques caractérisées par des schémas mixtes de réactions immunitaires innées et/ou adaptatives dérégulées, conduisant à une activation chronique du système immunitaire et à une inflammation des tissus, se traduisant sur le plan clinique par de nombreuses manifestations auto-immunes et auto-inflammatoires variables et concomitantes survenant dans divers systèmes d'organes."},"de":{"name":"Autoinflammatorisches und autoimmunes Syndrom, gemischtes"},"es":{"name":"Síndrome autoinflamatorio y autoinmune mixto","definition":"El síndrome autoinflamatorio y autoinmune mixto es un grupo de enfermedades sistémicas caracterizadas por patrones mixtos de respuestas inmunitarias innatas y/o adaptativas disreguladas que conducen a la activación crónica del sistema inmunitario e inflamación tisular. Clínicamente se presenta con una amplia gama de manifestaciones autoinflamatorias variables, concomitantes y autoinmunes, en diversos sistemas orgánicos."},"it":{"name":"Sindrome mista autoinfiammatoria e autoimmune","definition":"La sindrome mista autoinfiammatoria e autoimmune comprende un gruppo di malattie sistemiche caratterizzate dalla disregolazione delle risposte immunitarie innate e/o adattive, che esita nell'attivazione cronica del sistema immunitario e nell'infiammazione dei tessuti, che, dal punto di vista clinico, si manifestano con la concorrenza di un'ampia gamma di sintomi autoimmuni ed autoinfiammatori, di gravità variabile, che colpiscono diversi organi."},"nl":{"name":"Gemengd auto-inflammatoir en auto-immuun syndroom","definition":"Gemengd auto-inflammatoir en auto-immuun syndroom is een groep van systemische ziekten gekarakteriseerd door gemengde patronen van ontregelde aangeboren en/of verworven immuunresponsen, met als gevolg chronische activatie van het immuunsysteem en inflammatie van weefsels die zich klinisch presenteren met een brede waaier aan variabele, gelijktijdige, auto-immune en auto-inflammatoire manifestaties in verschillende orgaansystemen."},"pt":{"name":"Síndrome autoinflamatória e autoimune mista"},"pl":{"name":"Mieszany zespół autozapalny i autoimmunologiczny","definition":"*Mieszany zespół autozapalny i autoimmunologiczny to grupa chorób ogólnoustrojowych, które charakteryzują się zaburzeniami regulacji wrodzonych i/lub adaptacyjnych odpowiedzi immunologicznych o mieszanym wzorcu i które prowadzą do przewlekłej aktywacji układu odpornościowego i zapalenia tkanek. Klinicznie obserwuje się współwystępowanie zróżnicowanych objawów autoimmunologicznych i autozapalnych, dotyczących różnych narządów."},"cs":{"name":"Smíšený autoinflamatorní a autoimunitní syndrom"},"uk":{"name":"Змішаний аутозапальний та аутоімунний синдром","definition":"A group of systemic diseases characterized by mixed patterns of dysregulated innate and/or adaptive immune responses, leading to chronic activation of the immune system and tissue inflammation, which presents clincally with a wide range of variable, concomitant, autoimmune and autoinflammatory manifestations in various organ systems."},"zh":{"name":"混合性自身炎症和自身免疫综合征","definition":"混合性自身炎症和自身免疫综合征是一组以先天性和/或适应性免疫反应失调的混合模式为特征的系统性疾病，导致免疫系统的慢性激活和组织炎症，其临床表现为多样的、伴随的、多器官系统的自身免疫和自身炎症表现。"},"tr":{"name":"Karma otoinflamatuar ve otoimmün sendrom"}},"xrefs":[{"source":"MONDO","code":"17956","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680958","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":93665,"name":"Autoinflammatory syndrome","classifications":[196]},{"orpha":319719,"name":"Autoinflammatory syndrome of childhood","classifications":[231]},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]}],"children":[{"orpha":324530,"name":"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation","type":"Disease"},{"orpha":329173,"name":"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis","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":695807,"name":"Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome","type":"Disease"},{"orpha":300359,"name":"PLCG2-associated antibody deficiency and immune dysregulation","type":"Disease"},{"orpha":1214,"name":"Progressive hemifacial atrophy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}