{"id":697,"date":"2020-07-01T07:53:19","date_gmt":"2020-07-01T04:53:19","guid":{"rendered":"https:\/\/sites.uef.fi\/genediagnostics\/?page_id=697"},"modified":"2025-12-17T14:36:10","modified_gmt":"2025-12-17T12:36:10","slug":"apeced","status":"publish","type":"page","link":"https:\/\/sites.uef.fi\/genediagnostics\/monogeeniset-sairaudet\/apeced\/","title":{"rendered":"APECED"},"content":{"rendered":"<p class=\"genediag_paragraph\">Tyypin 1 APECED (autoimmuunipolyendokrinopatia-kandidiaasi-ektodermidystrofia, <a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=3035&amp;Disease_Disease_Search_diseaseGroup=aire&amp;Disease_Disease_Search_diseaseType=Gen&amp;Disease(s)\/group%20of%20diseases=Autoimmune-polyendocrinopathy-type-1&amp;title=Autoimmune%20polyendocrinopathy%20type%201&amp;search=Disease_Search_Simple\">ORPHA 3453<\/a>, <a href=\"https:\/\/omim.org\/entry\/240300\">OMIM 240300<\/a>) on suomalaiseen tautiperint\u00f6\u00f6n liittyv\u00e4 sairaus, joka periytyy autosomissa resessiivisesti. Sairaus on varsin harvinainen, sill\u00e4 vuosittain syntyy keskim\u00e4\u00e4rin kaksi lasta, joilla on APECED. Tuhannesta suomalaisesta keskim\u00e4\u00e4rin 5\u201310 (0,5\u20131 %) on viallisen APECED-geenin kantajia. Taudin erilaiset elinspesifiset autoimmuunitautien ilmentym\u00e4t ovat: suun hiivasieni tai muu hiivatulehdus, lis\u00e4kilpirauhasen vajaatoiminta, lis\u00e4munuaiskuoren vajaatoiminta, kilpirauhasen vajaatoiminta, diabetes, hypogonadismi, atrofinen gastriitti, hampaiden kiillevajaus, kynsimuutokset, hiusten l\u00e4ht\u00f6, silmien sarveiskalvon tulehdus ja ihon valkop\u00e4lvisyys. N\u00e4iden l\u00f6yd\u00f6sten alkamisik\u00e4 ja yleisyys vaihtelevat suuresti eri potilaiden v\u00e4lill\u00e4.<\/p>\n<p>Taudin aiheuttaa variantti autoimmune regulator (AIRE) -nimist\u00e4 transkriptiotekij\u00e4\u00e4 koodaavassa geeniss\u00e4 (<a href=\"https:\/\/omim.org\/entry\/607358\">OMIM 607358<\/a>), joka sijaitsee kromosomissa 21 (21q22.3). AIRE liittyy keskeisell\u00e4 tavalla immuunij\u00e4rjestelm\u00e4n kehittymiseen ja erityisesti immunologisen toleranssin syntyyn. Kolme yleisint\u00e4 geenimuutosta selitt\u00e4v\u00e4t yli 90 % kaikista APECED-tapauksista. Suomessa yleisin geenimuutos on p.Arg257Ter.<\/p>\n<ul>\n<li class=\"genediag_paragraph\">NC_000021.8:g.45709656C&gt;T, LRG_18:g.8894C&gt;T, NM_000383.4:c.769C&gt;T, NP_000374.1:p.Arg257Ter, rs121434254<\/li>\n<\/ul>\n<p class=\"genediag_paragraph\">Valtavariantit analysoidaan TaqMan-menetelm\u00e4ll\u00e4. Geenien koodaavien alueiden sekvensointiin k\u00e4ytet\u00e4\u00e4n uuden sukupolven sekvensointia (Next Generation Sequencing, NGS) tai perinteist\u00e4 kapillaarisekvensointia.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tyypin 1 APECED (autoimmuunipolyendokrinopatia-kandidiaasi-ektodermidystrofia, ORPHA 3453, OMIM 240300) on suomalaiseen tautiperint\u00f6\u00f6n liittyv\u00e4 sairaus, joka periytyy autosomissa resessiivisesti. Sairaus on varsin harvinainen, sill\u00e4 vuosittain syntyy keskim\u00e4\u00e4rin kaksi lasta, joilla on APECED. Tuhannesta suomalaisesta keskim\u00e4\u00e4rin 5\u201310 (0,5\u20131 %) on viallisen APECED-geenin kantajia. Taudin erilaiset elinspesifiset autoimmuunitautien ilmentym\u00e4t ovat: suun hiivasieni tai muu hiivatulehdus, lis\u00e4kilpirauhasen vajaatoiminta, lis\u00e4munuaiskuoren vajaatoiminta, [&hellip;]<\/p>\n","protected":false},"author":203,"featured_media":511,"parent":137,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"class_list":["post-697","page","type-page","status-publish","has-post-thumbnail","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>APECED - Geenidiagnostiikka<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sites.uef.fi\/genediagnostics\/monogeeniset-sairaudet\/apeced\/\" \/>\n<meta property=\"og:locale\" content=\"fi_FI\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"APECED - Geenidiagnostiikka\" \/>\n<meta property=\"og:description\" content=\"Tyypin 1 APECED (autoimmuunipolyendokrinopatia-kandidiaasi-ektodermidystrofia, ORPHA 3453, OMIM 240300) on suomalaiseen tautiperint\u00f6\u00f6n liittyv\u00e4 sairaus, joka periytyy autosomissa resessiivisesti. Sairaus on varsin harvinainen, sill\u00e4 vuosittain syntyy keskim\u00e4\u00e4rin kaksi lasta, joilla on APECED. Tuhannesta suomalaisesta keskim\u00e4\u00e4rin 5\u201310 (0,5\u20131 %) on viallisen APECED-geenin kantajia. 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