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class=\"wp-block-paragraph\">\u75c7\u72b6\u304c\u51fa\u308b\u524d\u306b\u898b\u3064\u3051\u308b\u305f\u3081\u306e<strong>\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0<\/strong>\uff08T\u7d30\u80de\u304c\u3064\u304f\u3089\u308c\u3066\u3044\u308b\u304b\u3092\u3001\u304b\u304b\u3068\u304b\u3089\u63a1\u3063\u305f\u8840\u6db2\u3067\u8abf\u3079\u308b\u691c\u67fb\uff09\u304c\u3001\u65e5\u672c\u3067\u3082\u4e00\u90e8\u306e\u5730\u57df\u3067\u884c\u308f\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<strong>\u611f\u67d3\u75c7\u3092\u8d77\u3053\u3059\u524d\u3001\u751f\u30ef\u30af\u30c1\u30f3\u3092\u53d7\u3051\u308b\u524d\u306b\u898b\u3064\u3051\u3089\u308c\u308b\u304b\u3069\u3046\u304b\u304c\u3001\u6cbb\u7642\u306e\u6210\u7e3e\u3092\u5927\u304d\u304f\u5de6\u53f3\u3057\u307e\u3059\u3002<\/strong><\/p>\n\n\n<p class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u3053\u306e\u75c5\u6c17\u3067\u306f <strong>IL2RG<\/strong> \u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u75c7\u72b6\u304c\u4f3c\u3066\u3044\u3066\u3082\u3001\u91cd\u75c7\u8907\u5408\u514d\u75ab\u4e0d\u5168\u75c7\u306f\u578b\u306b\u3088\u3063\u3066\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306f\u3001\u3054\u5bb6\u65cf\u306e\u898b\u901a\u3057\u3084\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3092\u304a\u4f1d\u3048\u3059\u308b\u3046\u3048\u3067\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u306f\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u3067\u3059\u3002<\/strong>\u5065\u5eb7\u306a\u65b9\u306e\u9020\u8840\u5e79\u7d30\u80de\uff08\u9aa8\u9ac4\u3084\u81cd\u5e2f\u8840\u306a\u3069\uff09\u3092\u79fb\u690d\u3057\u3001\u514d\u75ab\u306e\u3057\u304f\u307f\u3092\u3064\u304f\u308a\u76f4\u3057\u307e\u3059\u3002<strong>\u751f\u5f8c\u65e9\u3044\u6642\u671f\u306b\u3001\u91cd\u3044\u611f\u67d3\u75c7\u3092\u8d77\u3053\u3059\u524d\u306b\u79fb\u690d\u3092\u884c\u3046\u307b\u3069\u3001\u826f\u3044\u6210\u7e3e\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u79fb\u690d\u306b\u306f\u5408\u4f75\u75c7\u306e\u5371\u967a\u3082\u3042\u308a\u3001\u30c9\u30ca\u30fc\u306e\u898b\u3064\u304b\u308a\u65b9\u3084\u304a\u5b50\u3055\u307e\u306e\u72b6\u614b\u306b\u3088\u3063\u3066\u7d50\u679c\u306f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d<\/strong>\uff1a\u304d\u3087\u3046\u3060\u3044\u306a\u3069\u578b\u306e\u5408\u3046\u30c9\u30ca\u30fc\u304c\u3044\u306a\u3044\u5834\u5408\u3082\u3001\u3054\u89aa\u65cf\u3084\u9aa8\u9ac4\u30d0\u30f3\u30af\u30fb\u81cd\u5e2f\u8840\u304b\u3089\u306e\u79fb\u690d\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u4e88\u9632<\/strong>\uff1a\u79fb\u690d\u307e\u3067\u306e\u3042\u3044\u3060\u3001\u4eba\u6df7\u307f\u3092\u907f\u3051\u3001\u30cb\u30e5\u30fc\u30e2\u30b7\u30b9\u30c1\u30b9\u80ba\u708e\u3084\u30ab\u30d3\u306e\u611f\u67d3\u3092\u9632\u3050\u85ac\u3092\u4f7f\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u88dc\u5145\u7642\u6cd5<\/strong>\uff1a\u8db3\u308a\u306a\u3044\u6297\u4f53\u3092\u70b9\u6ef4\u3084\u76ae\u4e0b\u6ce8\u5c04\u3067\u88dc\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u751f\u30ef\u30af\u30c1\u30f3\u3092\u53d7\u3051\u306a\u3044<\/strong>\uff1aBCG\u3084\u30ed\u30bf\u30a6\u30a4\u30eb\u30b9\u30ef\u30af\u30c1\u30f3\u306a\u3069\u306f\u3001\u8a3a\u65ad\u304c\u3064\u304f\u307e\u3067\u3001\u307e\u305f\u306f\u514d\u75ab\u304c\u56de\u5fa9\u3059\u308b\u307e\u3067\u63a7\u3048\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8f38\u8840\u6642\u306e\u6ce8\u610f<\/strong>\uff1a\u8f38\u8840\u304c\u5fc5\u8981\u306a\u3068\u304d\u306f\u3001\u653e\u5c04\u7dda\u3092\u5f53\u3066\u305f\u8840\u6db2\u88fd\u5264\u306a\u3069\u3001\u3053\u306e\u75c5\u6c17\u306b\u9069\u3057\u305f\u88fd\u5264\u3092\u7528\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642<\/strong>\uff1a\u304a\u5b50\u3055\u307e\u81ea\u8eab\u306e\u9020\u8840\u5e79\u7d30\u80de\u306b\u6b63\u5e38\u306a\u907a\u4f1d\u5b50\u3092\u5165\u308c\u308b\u6cbb\u7642\u304c\u6d77\u5916\u3067\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002<strong>\u307e\u3060\u7814\u7a76\u6bb5\u968e\u306e\u6cbb\u7642\u3067\u3001\u53d7\u3051\u3089\u308c\u308b\u65bd\u8a2d\u306f\u9650\u3089\u308c\u307e\u3059\u3002<\/strong><\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u9577\u671f\u306e\u5165\u9662\u3084\u9694\u96e2\u751f\u6d3b\u3092\u652f\u3048\u308b\u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u306a\u652f\u63f4\u3082\u5927\u5207\u3067\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>IL2RG<\/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 class=\"wp-block-paragraph\">\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>IL2RG<\/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 class=\"wp-block-paragraph\">X\u9023\u9396\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u304a\u6bcd\u3055\u307e\u304c\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>\u7537\u306e\u5b50\u306e2\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\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 class=\"wp-block-paragraph\">\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 class=\"wp-block-paragraph\"><strong>IL2RG<\/strong> \u306f<strong>\u5171\u901a\u03b3\u9396\uff08\u03b3c\u3001CD132\uff09<\/strong>\u3092\u30b3\u30fc\u30c9\u3057\u3001\u03b3c \u306f <strong>IL-2\u3001IL-4\u3001IL-7\u3001IL-9\u3001IL-15\u3001IL-21 \u306e\u5404\u53d7\u5bb9\u4f53\u306b\u5171\u6709\u3055\u308c\u308b<\/strong>\u3002\u30b7\u30b0\u30ca\u30eb\u306f \u03b3c \u306b\u4f1a\u5408\u3059\u308b <em>JAK3<\/em> \u3092\u4ecb\u3057\u3066\u4f1d\u9054\u3055\u308c\u308b\u3002<strong>IL-7 \u30b7\u30b0\u30ca\u30eb\u306e\u6b20\u5982\u306b\u3088\u308a\u80f8\u817a\u3067\u306eT\u7d30\u80de\u5206\u5316\u304c\u3001IL-15 \u30b7\u30b0\u30ca\u30eb\u306e\u6b20\u5982\u306b\u3088\u308aNK\u7d30\u80de\u5206\u5316\u304c\u969c\u5bb3\u3055\u308c\u3001\u5178\u578b\u7684\u306b\u306f T-B+NK- \u578b\u306e\u91cd\u75c7\u8907\u5408\u514d\u75ab\u4e0d\u5168\u75c7\u3092\u5448\u3059\u308b<\/strong>\u3002B\u7d30\u80de\u306f\u6570\u3068\u3057\u3066\u306f\u4fdd\u305f\u308c\u308b\u304c\u3001T\u7d30\u80de\u304b\u3089\u306e\u88dc\u52a9\u3068 IL-21 \u30b7\u30b0\u30ca\u30eb\u3092\u6b20\u304f\u305f\u3081\u3001\u6297\u4f53\u7523\u751f\u306f\u6a5f\u80fd\u7684\u306b\u7834\u7dbb\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u540c\u4e00\u907a\u4f1d\u5b50\u5185\u3067\u8868\u73fe\u578b\u306b\u5e45\u304c\u3042\u308b<\/strong>\u2014\u2014\u6a5f\u80fd\u55aa\u5931\u578b\u5909\u7570\u3067\u306f\u53e4\u5178\u7684\u306a\u91cd\u75c7\u578b\u3068\u306a\u308b\u4e00\u65b9\u3001<strong>\u6b8b\u5b58\u6a5f\u80fd\u3092\u6301\u3064\u4f4e\u5f62\u8cea\u5909\u7570\u3067\u306f\u3001T\u7d30\u80de\u304c\u3042\u308b\u7a0b\u5ea6\u5b58\u5728\u3059\u308b\u975e\u5178\u578b\uff08leaky\uff09\u578b\u3001\u30aa\u30fc\u30e1\u30f3\u75c7\u5019\u7fa4\u69d8\u306e\u8868\u73fe\u578b\u3001\u9045\u767a\u6027\u3067\u8efd\u75c7\u306e X\u9023\u9396\u6027\u8907\u5408\u514d\u75ab\u4e0d\u5168\u75c7<\/strong>\u3092\u5448\u3057\u3046\u308b\u3002\u307e\u305f\u3001<strong>\u7d4c\u80ce\u76e4\u7684\u306b\u79fb\u884c\u3057\u305f\u6bcd\u4f53T\u7d30\u80de\u306e\u751f\u7740<\/strong>\u306b\u3088\u308aT\u7d30\u80de\u6570\u304c\u898b\u304b\u3051\u4e0a\u4fdd\u305f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001T\u7d30\u80de\u306e\u7531\u6765\u3084\u6a5f\u80fd\u306e\u8a55\u4fa1\u304c\u8a3a\u65ad\u4e0a\u91cd\u8981\u3068\u306a\u308b\u3002\u4f53\u7d30\u80de\u30ec\u30d9\u30eb\u3067\u5909\u7570\u304c\u5fa9\u5e30\uff08\u30ea\u30d0\u30fc\u30b8\u30e7\u30f3\uff09\u3057\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u5831\u544a\u3082\u3042\u308b\u3002\u5973\u6027\u30ad\u30e3\u30ea\u30a2\u3067\u306f\u30ea\u30f3\u30d1\u7403\u7cfb\u3067<strong>\u975e\u30e9\u30f3\u30c0\u30e0\u306aX\u67d3\u8272\u4f53\u4e0d\u6d3b\u5316<\/strong>\u304c\u307f\u3089\u308c\u3001\u901a\u5e38\u306f\u7121\u75c7\u72b6\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u540c\u3058 T-B+NK- \u578b\u3092\u793a\u3059 <em>JAK3<\/em> \u6b20\u640d\u75c7\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff09\u3001T-B+NK+ \u578b\u306e <em>IL7R<\/em> \u6b20\u640d\u75c7\u3001T-B-NK+ \u578b\u306e <em>RAG1<\/em>\/<em>RAG2<\/em> \u6b20\u640d\u75c7\u30fb<em>DCLRE1C<\/em>\uff08Artemis\uff09\u6b20\u640d\u75c7\u3001T-B-NK- \u578b\u306e\u30a2\u30c7\u30ce\u30b7\u30f3\u30c7\u30a2\u30df\u30ca\u30fc\u30bc\uff08<em>ADA<\/em>\uff09\u6b20\u640d\u75c7\u304c\u6319\u304c\u308b\u3002<strong>\u7537\u5150\u306e T-B+NK- \u578b\u3067\u306f\u672c\u75c7\u3092\u307e\u305a\u8003\u3048\u308b\u304c\u3001<em>JAK3<\/em> \u6b20\u640d\u75c7\u3068\u306f\u907a\u4f1d\u5f62\u5f0f\u304c\u7570\u306a\u308a\u3001\u540c\u80de\u3084\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306e\u8aac\u660e\u304c\u5909\u308f\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong>\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u306f TREC\uff08T\u7d30\u80de\u53d7\u5bb9\u4f53\u5207\u9664\u30b5\u30fc\u30af\u30eb\uff09\u306e\u4f4e\u5024\u304c\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u3002\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u306e\u6210\u7e3e\u306f\u3001<strong>\u751f\u5f8c3.5\u304b\u6708\u4ee5\u5185\u306e\u79fb\u690d\u3084\u3001\u79fb\u690d\u524d\u306b\u6d3b\u52d5\u6027\u306e\u611f\u67d3\u75c7\u304c\u306a\u3044\u3053\u3068\u304c\u826f\u597d\u306a\u751f\u5b58\u7387\u3068\u95a2\u9023\u3059\u308b<\/strong>\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u521d\u671f\u306e\u30ac\u30f3\u30de\u30ec\u30c8\u30ed\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u306b\u3088\u308b\u907a\u4f1d\u5b50\u6cbb\u7642\u3067\u306f\u633f\u5165\u5909\u7570\u306b\u3088\u308b\u767d\u8840\u75c5\u304c\u554f\u984c\u3068\u306a\u308a\u3001\u73fe\u5728\u306f\u81ea\u5df1\u4e0d\u6d3b\u5316\u578b\u30ec\u30f3\u30c1\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3092\u7528\u3044\u305f\u81e8\u5e8a\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u308b\u3002<\/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. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306fX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u7537\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u3001\u5973\u306e\u5b50\u3067\u306f2\u5206\u306e1\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u4e00\u65b9\u3001\u304a\u5b50\u3055\u307e\u306b\u65b0\u305f\u306b\u5909\u5316\u304c\u751f\u3058\u305f\u5834\u5408\u306f\u3001\u304a\u6bcd\u3055\u307e\u306f\u30ad\u30e3\u30ea\u30a2\u3067\u306f\u306a\u3044\u305f\u3081\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3067\u518d\u3073\u8d77\u3053\u308b\u53ef\u80fd\u6027\u306f\u4f4e\u304f\u306a\u308a\u307e\u3059\u3002<strong>\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3067\u898b\u901a\u3057\u304c\u5927\u304d\u304f\u5909\u308f\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u304b\u3081\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5973\u306e\u5b50\u3082\u767a\u75c7\u3057\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u5973\u306e\u5b50\u306fX\u67d3\u8272\u4f53\u30922\u672c\u6301\u3064\u305f\u3081\u3001\u5909\u5316\u3092\u53d7\u3051\u7d99\u3044\u3067\u3082\u3075\u3064\u3046\u306f\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308a\u3001\u767a\u75c7\u3059\u308b\u3053\u3068\u306f\u307e\u308c\u3067\u3059\u3002<\/strong>\u5973\u306e\u5b50\u306b\u540c\u3058\u3088\u3046\u306a\u514d\u75ab\u4e0d\u5168\u306e\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u5225\u306e\u578b\u306e\u91cd\u75c7\u8907\u5408\u514d\u75ab\u4e0d\u5168\u75c7\u304c\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u898b\u3064\u304b\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u306b\u60a3\u8005\u3055\u3093\u304c\u3044\u3066\u539f\u56e0\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u3068\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002<strong>\u51fa\u751f\u524d\u306b\u5206\u304b\u3063\u3066\u3044\u308c\u3070\u3001\u751f\u307e\u308c\u3066\u3059\u3050\u306b\u611f\u67d3\u4e88\u9632\u3092\u59cb\u3081\u3001\u65e9\u671f\u306e\u79fb\u690d\u306e\u6e96\u5099\u3092\u9032\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u4e88\u9632\u63a5\u7a2e\u3067\u6c17\u3092\u3064\u3051\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>BCG\u3084\u30ed\u30bf\u30a6\u30a4\u30eb\u30b9\u30ef\u30af\u30c1\u30f3\u306a\u3069\u306e\u751f\u30ef\u30af\u30c1\u30f3\u306f\u3001\u3053\u306e\u75c5\u6c17\u306e\u304a\u5b50\u3055\u307e\u3067\u306f\u91cd\u3044\u611f\u67d3\u3092\u8d77\u3053\u3059\u304a\u305d\u308c\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u3054\u5bb6\u65cf\u306b\u3053\u306e\u75c5\u6c17\u306e\u65b9\u304c\u3044\u308b\u5834\u5408\u3084\u3001\u304a\u6bcd\u3055\u307e\u304c\u30ad\u30e3\u30ea\u30a2\u3068\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u751f\u30ef\u30af\u30c1\u30f3\u3092\u53d7\u3051\u308b\u524d\u306b\u5fc5\u305a\u4e3b\u6cbb\u533b\u306b\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\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>Allenspach E, Rawlings DJ, Scharenberg AM. X-Linked Severe Combined Immunodeficiency. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #300400 Severe combined immunodeficiency, X-linked; SCIDX1. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Noguchi M, Yi H, Rosenblatt HM, et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. <em>Cell<\/em>. 1993;73(1):147-157.<\/li>\n\n\n\n<li>Pai SY, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. <em>N Engl J Med<\/em>. 2014;371(5):434-446.<\/li>\n\n\n\n<li>Mamcarz E, Zhou S, Lockey T, et al. Lentiviral gene therapy combined with low-dose busulfan in infants with SCID-X1. <em>N Engl J Med<\/em>. 2019;380(16):1525-1534.<\/li>\n\n\n\n<li>Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. <em>JAMA<\/em>. 2014;312(7):729-738.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147398","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\/147398","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":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147398\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147398"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}