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class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>UNC13D<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>UNC13D<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p>\u5bb6\u65cf\u6027\u8840\u7403\u8caa\u98df\u6027\u30ea\u30f3\u30d1\u7d44\u7e54\u7403\u75c7\uff08FHL\uff09\u306f\u3001<strong>\u7d30\u80de\u50b7\u5bb3\u6027\u30ea\u30f3\u30d1\u7403\uff08CTL\u30fbNK\u7d30\u80de\uff09\u306e\u30d1\u30fc\u30d5\u30a9\u30ea\u30f3\u4f9d\u5b58\u6027\u7d30\u80de\u50b7\u5bb3\u7d4c\u8def\u306e\u6b20\u640d<\/strong>\u306b\u3088\u308a\u751f\u3058\u308b\u3002\u6a19\u7684\u7d30\u80de\uff08\u6297\u539f\u63d0\u793a\u7d30\u80de\u3092\u542b\u3080\uff09\u3092\u9664\u53bb\u3067\u304d\u306a\u3044\u305f\u3081<strong>\u6297\u539f\u63d0\u793a\u3068T\u7d30\u80de\u6d3b\u6027\u5316\u304c\u7d42\u606f\u305b\u305a\u3001IFN-\u03b3\u3092\u4e2d\u5fc3\u3068\u3059\u308b\u30b5\u30a4\u30c8\u30ab\u30a4\u30f3\u30b9\u30c8\u30fc\u30e0\u3068\u30de\u30af\u30ed\u30d5\u30a1\u30fc\u30b8\u306e\u904e\u5270\u6d3b\u6027\u5316<\/strong>\u306b\u81f3\u308b\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u7d4c\u8def\u4e0a\u306e\u6bb5\u968e\u306b\u5bfe\u5fdc\u3057\u3001<strong><em>PRF1<\/em>\uff08\u30a8\u30d5\u30a7\u30af\u30bf\u30fc\uff09\u3001<em>UNC13D<\/em>\uff08\u30d7\u30e9\u30a4\u30df\u30f3\u30b0\uff09\u3001<em>STX11<\/em>\u30fb<em>STXBP2<\/em>\uff08\u819c\u878d\u5408\uff09\u3001<em>LYST<\/em>\u30fb<em>RAB27A<\/em>\u30fb<em>AP3B1<\/em>\uff08\u9846\u7c92\u306e\u751f\u6210\u3068\u8f38\u9001\uff1d\u8272\u7d20\u4f4e\u4e0b\u75c7\u3092\u4f34\u3046\u75c7\u5019\u7fa4\u6027HLH\uff09<\/strong>\u306b\u6574\u7406\u3055\u308c\u308b\u3002<\/p>\n\n\n<p><strong>UNC13D<\/strong>\uff08Munc13-4\u300117q25.1\uff09\u306fMunc13\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3057\u3001<strong>\u7d30\u80de\u50b7\u5bb3\u6027\u9846\u7c92\u306e\u5f62\u8cea\u819c\u3078\u306e\u30d7\u30e9\u30a4\u30df\u30f3\u30b0\uff08\u878d\u5408\u53ef\u80fd\u306a\u72b6\u614b\u3078\u306e\u79fb\u884c\uff09<\/strong>\u3092\u62c5\u3046\u3002\u30d1\u30fc\u30d5\u30a9\u30ea\u30f3\u306f\u6b63\u5e38\u306b\u767a\u73fe\u3059\u308b\u305f\u3081\u3001<strong>\u30d5\u30ed\u30fc\u30b5\u30a4\u30c8\u30e1\u30c8\u30ea\u30fc\u3067\u306fCD107a\uff08LAMP-1\uff09\u8131\u9846\u7c92\u30a2\u30c3\u30bb\u30a4\u306e\u4f4e\u4e0b\u3068\u3057\u3066\u691c\u51fa\u3055\u308c\u308b<\/strong>\u3002<strong>\u65e5\u672c\u4eba\u75c7\u4f8b\u3067\u6700\u591a\u306e\u539f\u56e0\u907a\u4f1d\u5b50<\/strong>\u3067\u3042\u308a\u3001<strong>\u30a4\u30f3\u30c8\u30ed\u30f31\u306e\u6df1\u90e8\u5909\u7570\uff08c.118-308C&gt;T\uff09\u3084\u30a4\u30f3\u30d0\u30fc\u30b8\u30e7\u30f3\u3092\u542b\u3080\u69cb\u9020\u7570\u5e38\u304c\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3067\u898b\u9003\u3055\u308c\u3046\u308b<\/strong>\u305f\u3081\u3001\u81e8\u5e8a\u7684\u306bFHL\u3092\u5f37\u304f\u7591\u3046\u75c7\u4f8b\u3067\u306fRNA\u89e3\u6790\u3084\u30b3\u30d4\u30fc\u6570\u89e3\u6790\u3092\u8ffd\u52a0\u3059\u308b\u3002<\/p>\n\n\n<p>\u9451\u5225\u3068\u3057\u3066\u306f\u3001<strong>X\u9023\u9396\u30ea\u30f3\u30d1\u5897\u6b96\u75c7\u5019\u7fa4\uff08<em>SH2D1A<\/em>\u3001<em>XIAP<\/em>\uff09<\/strong>\u3001\u30c1\u30a7\u30c7\u30a3\u30a2\u30c3\u30af\u30fb\u6771\u75c7\u5019\u7fa4\u3001\u30b0\u30ea\u30bb\u30ea\u75c7\u5019\u7fa42\u578b\u3001\u30d8\u30eb\u30de\u30f3\u30b9\u30ad\u30fc\u30fb\u30d1\u30c9\u30e9\u30c3\u30af\u75c7\u5019\u7fa42\u578b\u3001\u6162\u6027\u6d3b\u52d5\u6027EB\u30a6\u30a4\u30eb\u30b9\u611f\u67d3\u75c7\u3001\u305d\u3057\u3066<strong>\u60aa\u6027\u30ea\u30f3\u30d1\u816b\u30fb\u5168\u8eab\u578b\u82e5\u5e74\u6027\u7279\u767a\u6027\u95a2\u7bc0\u708e\u306b\u4f34\u3046\u30de\u30af\u30ed\u30d5\u30a1\u30fc\u30b8\u6d3b\u6027\u5316\u75c7\u5019\u7fa4<\/strong>\u304c\u6319\u304c\u308b\u3002<strong>\u6210\u4eba\u767a\u75c7\u4f8b\u3067\u3082\u3001\u4f4e\u5f62\u614b\u6027\u30d0\u30ea\u30a2\u30f3\u30c8\u306b\u3088\u308b\u4e00\u6b21\u6027HLH\u304c\u4e00\u5b9a\u5272\u5408\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u5e74\u9f62\u306e\u307f\u3067\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u898b\u9001\u3089\u306a\u3044\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u51fa\u751f5\u4e07\u4eba\u304b\u308915\u4e07\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3068\u3055\u308c\u307e\u3059\u3002\u65e5\u672c\u3067\u306f\u3001<strong>UNC13D\u907a\u4f1d\u5b50\u306b\u3088\u308b3\u578b\u304c\u3082\u3063\u3068\u3082\u591a\u3044<\/strong>\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u98a8\u90aa\u3092\u304d\u3063\u304b\u3051\u306b\u767a\u75c7\u3057\u305f\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u75c5\u6c17\u306f\u3001<strong>\u30a6\u30a4\u30eb\u30b9\u611f\u67d3\uff08\u3068\u304f\u306bEB\u30a6\u30a4\u30eb\u30b9\uff09\u304c\u5f15\u304d\u91d1\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u539f\u56e0\u306f\u611f\u67d3\u305d\u306e\u3082\u306e\u3067\u306f\u306a\u304f\u3001<strong>\u611f\u67d3\u306b\u5bfe\u3059\u308b\u514d\u75ab\u306e\u53cd\u5fdc\u3092\u6b62\u3081\u3089\u308c\u306a\u3044\u3068\u3044\u3046\u4f53\u8cea<\/strong>\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u3054\u304d\u3087\u3046\u3060\u3044\u3082\u691c\u67fb\u3092\u53d7\u3051\u305f\u307b\u3046\u304c\u3088\u3044\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. <strong>\u306f\u3044\u3002\u5f37\u304f\u304a\u3059\u3059\u3081\u3057\u307e\u3059\u3002<\/strong>\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u3082\u3063\u3066\u3044\u3066\u3082\u3001\u307e\u3060\u75c7\u72b6\u304c\u51fa\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u767a\u75c7\u524d\u306b\u5206\u304b\u308c\u3070\u3001\u72b6\u614b\u306e\u3088\u3044\u3046\u3061\u306b\u79fb\u690d\u3092\u8a08\u753b\u3067\u304d\u3001<strong>\u6cbb\u7642\u6210\u7e3e\u304c\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u5b50\u691c\u67fb\u3067\u7570\u5e38\u304c\u898b\u3064\u304b\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u578b\u3067\u306f\u3001\u901a\u5e38\u306e\u691c\u67fb\u3067\u306f\u898b\u3064\u3051\u306b\u304f\u3044\u7a2e\u985e\u306e\u5909\u5316\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u304b\u3089\u5f37\u304f\u7591\u308f\u308c\u308b\u5834\u5408\u306f\u3001\u8ffd\u52a0\u306e\u89e3\u6790\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Henter JI, Horne A, Aric\u00f3 M, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. <em>Pediatr Blood Cancer<\/em>. 2007;48(2):124-131.<\/li>\n\n\n\n<li>Sepulveda FE, de Saint Basile G. Hemophagocytic syndrome: primary forms and predisposing conditions. <em>Curr Opin Immunol<\/em>. 2017;49:20-26.<\/li>\n\n\n\n<li>Jordan MB, Allen CE, Greenberg J, et al. Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: recommendations from the North American Consortium for Histiocytosis. <em>Pediatr Blood Cancer<\/em>. 2019;66(11):e27929.<\/li>\n\n\n\n<li>Feldmann J, Callebaut I, Raposo G, et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). <em>Cell<\/em>. 2003;115(4):461-473.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136971","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136971","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136971\/revisions"}],"predecessor-version":[{"id":137289,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136971\/revisions\/137289"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136971"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}