{"id":60362,"date":"2023-08-25T12:13:19","date_gmt":"2023-08-25T03:13:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60362"},"modified":"2026-05-08T13:40:58","modified_gmt":"2026-05-08T04:40:58","slug":"chronic-granulomatous-disease","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/chronic-granulomatous-disease\/","title":{"rendered":"X\u9023\u9396\u6027\u6162\u6027\u8089\u82bd\u816b\u75c7\uff08CGDX\uff09"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>X\u9023\u9396\u6027\u6162\u6027\u8089\u82bd\u816b\u75c7\uff08CGDX\uff09\u306f\u3001CYBB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u539f\u767a\u6027\u514d\u75ab\u4e0d\u5168\u75c7\u3067\u3059\u3002\u597d\u4e2d\u7403\u306eNADPH\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3057\u3001\u7d30\u83cc\u3084\u771f\u83cc\u306b\u5bfe\u3059\u308b\u9632\u5fa1\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3053\u3068\u3067\u3001\u91cd\u7be4\u306a\u611f\u67d3\u75c7\u3084\u6162\u6027\u708e\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001CGDX\u306e\u75c5\u614b\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6700\u65b0\u306e\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>CYBB\uff5cChronic Granulomatous Disease, X-Linked<\/p>\n\n\n\n<p><sup>X-Linked Chronic Cytochrome B-Negative Granulomatous Disease<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>X\u9023\u9396\u6027\u6162\u6027\u8089\u82bd\u816b\u75c7\uff08X-linked Chronic Granulomatous Disease, CGDX\uff09\u306f\u3001<strong>CYBB\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong>\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u539f\u767a\u6027\u514d\u75ab\u4e0d\u5168\u75c7\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u3067\u306f\u3001\u98df\u7d30\u80de\u306eNADPH\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u8907\u5408\u4f53\u306e\u6a5f\u80fd\u304c\u969c\u5bb3\u3055\u308c\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u75c5\u539f\u4f53\u306b\u5bfe\u3059\u308b\u6d3b\u6027\u9178\u7d20\u7a2e\uff08ROS\uff09\u306e\u7523\u751f\u304c\u4f4e\u4e0b\u3057\u3001\u7d30\u83cc\u3084\u771f\u83cc\u306b\u5bfe\u3059\u308b\u9632\u5fa1\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3002\u3053\u308c\u306b\u3088\u308a\u3001<strong>\u518d\u767a\u6027\u306e\u7d30\u83cc\u30fb\u771f\u83cc\u611f\u67d3\u75c7\u3084\u6162\u6027\u708e\u75c7\u3001\u8089\u82bd\u816b\u5f62\u6210<\/strong>\u304c\u7279\u5fb4\u7684\u306a\u81e8\u5e8a\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u4e3b\u306b\u5e7c\u5c11\u671f\u306b\u767a\u75c7\u3057\u3001<strong>\u30ea\u30f3\u30d1\u7bc0\u708e\u3001\u80ba\u708e\u3001\u76ae\u819a\u30fb\u9aa8\u611f\u67d3\u75c7\u3001\u81bf\u760d\u5f62\u6210\u3001\u708e\u75c7\u6027\u8178\u75be\u60a3<\/strong>\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002\u307e\u305f\u3001CGDX\u306fX\u67d3\u8272\u4f53\u4e0a\u306e<strong>CYBB\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong>\u306b\u8d77\u56e0\u3059\u308b\u305f\u3081\u3001<strong>\u7537\u6027\u306b\u591a\u304f\u767a\u75c7<\/strong>\u3057\u3001\u5973\u6027\u4fdd\u56e0\u8005\u3067\u306f\u4e0d\u5747\u7b49\u306aX\u67d3\u8272\u4f53\u4e0d\u6d3b\u5316\u306b\u3088\u308a\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>CGD\u306f\u5e0c\u5c11\u75be\u60a3\u3067\u3042\u308a\u3001\u767a\u75c7\u7387\u306f<strong>\u7d0425\u4e07\u51fa\u751f\u306b1\u4f8b<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002\u305d\u306e\u3046\u3061\u7d0465\uff5e70%\u306fX\u9023\u9396\u6027\uff08CYBB\u907a\u4f1d\u5b50\u5909\u7570\uff09<strong>\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u6b8b\u308a\u306e\u75c7\u4f8b\u306f<\/strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\uff08CYBA, NCF1, NCF2, NCF4, CYBC1\u907a\u4f1d\u5b50\u5909\u7570\uff09\u3067\u767a\u75c7\u3059\u308b\u3002X\u9023\u9396\u6027\u306e\u305f\u3081\u3001<strong>\u767a\u75c7\u8005\u306e\u5927\u90e8\u5206\u304c\u7537\u6027<\/strong>\u3067\u3042\u308a\u3001\u5973\u6027\u4fdd\u56e0\u8005\u306f\u901a\u5e38\u7121\u75c7\u5019\u6027\u3067\u3042\u308b\u304c\u3001\u4e00\u90e8\u3067\u514d\u75ab\u7570\u5e38\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>CGDX\u306f\u3001<strong>CYBB\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong>\u306b\u3088\u308a\u767a\u75c7\u3057\u3001NADPH\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc2\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3002NADPH\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc\u306f\u3001\u98df\u7d30\u80de\u304c\u75c5\u539f\u4f53\u3092\u6bba\u83cc\u3059\u308b\u305f\u3081\u306e\u6d3b\u6027\u9178\u7d20\u7a2e\uff08O\u2082\u207b, H\u2082O\u2082, ClO\u207b\uff09\u3092\u751f\u6210\u3059\u308b\u91cd\u8981\u306a\u9175\u7d20\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u611f\u67d3\u9632\u5fa1\u6a5f\u80fd\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u308a\u3001NADPH\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc2<strong>\u306e\u767a\u73fe\u304c\u5b8c\u5168\u306b\u5931\u308f\u308c\u308bX91\u2070\u578b\u3001\u90e8\u5206\u7684\u306b\u6a5f\u80fd\u3059\u308bX91\u207a\u578b\u3001\u767a\u73fe\u91cf\u304c\u4f4e\u4e0b\u3059\u308bX91\u207b\u578b<\/strong>\u304c\u5b58\u5728\u3059\u308b\u3002\u7279\u306bX91\u2070\u578b\u306f\u6700\u3082\u91cd\u7be4\u306a\u75c7\u72b6\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>CGDX\u306e\u4e3b\u306a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u518d\u767a\u6027\u7d30\u83cc\u30fb\u771f\u83cc\u611f\u67d3\u75c7<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li><strong>\u9ec4\u8272\u30d6\u30c9\u30a6\u7403\u83cc\uff08Staphylococcus aureus\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30a2\u30b9\u30da\u30eb\u30ae\u30eb\u30b9\uff08Aspergillus spp.\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30d0\u30fc\u30af\u30db\u30eb\u30c7\u30ea\u30a2\u30fb\u30bb\u30d1\u30b7\u30a2\uff08Burkholderia cepacia\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30ce\u30ab\u30eb\u30b8\u30a2\uff08Nocardia spp.\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30b5\u30eb\u30e2\u30cd\u30e9\uff08Salmonella spp.\uff09<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30f3\u30d1\u7bc0\u708e\u3001\u81bf\u760d\u5f62\u6210\uff08\u809d\u81d3\u30fb\u76ae\u819a\u30fb\u76f4\u8178\u306a\u3069\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u80ba\u708e\u3001\u6162\u6027\u80ba\u611f\u67d3\u75c7<\/strong><\/li>\n\n\n\n<li><strong>\u9aa8\u9ac4\u708e\uff08\u7279\u306bSerratia marcescens\u306b\u3088\u308b\u3082\u306e\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u708e\u75c7\u6027\u8178\u75be\u60a3\uff08\u30af\u30ed\u30fc\u30f3\u75c5\u69d8\u75c5\u5909\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u7121\u83cc\u6027\u8089\u82bd\u816b\uff08\u8180\u80f1\u3001\u6d88\u5316\u7ba1\u3001\u80ba\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u611f\u67d3\u75c7\u306e\u90e8\u4f4d\u3084\u91cd\u75c7\u5ea6\u306f\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308a\u3001\u7279\u306b<strong>\u30a2\u30b9\u30da\u30eb\u30ae\u30eb\u30b9\u611f\u67d3\u75c7<\/strong>\u3084<strong>\u30d0\u30fc\u30af\u30db\u30eb\u30c7\u30ea\u30a2\u611f\u67d3\u75c7<\/strong>\u306f\u81f4\u6b7b\u7684\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u4ee5\u4e0b\u306e\u65b9\u6cd5\u304c\u7528\u3044\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u6d3b\u6027\u9178\u7d20\u7523\u751f\u80fd\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30b8\u30d2\u30c9\u30ed\u30ed\u30fc\u30c0\u30df\u30f3\uff08DHR\uff09\u30a2\u30c3\u30bb\u30a4<\/strong>\uff08\u30d5\u30ed\u30fc\u30b5\u30a4\u30c8\u30e1\u30c8\u30ea\u30fc\u6cd5\uff09<\/li>\n\n\n\n<li><strong>\u30cb\u30c8\u30ed\u30d6\u30eb\u30fc\u30c6\u30c8\u30e9\u30be\u30ea\u30a6\u30e0\uff08NBT\uff09\u9084\u5143\u8a66\u9a13<\/strong>\uff08\u73fe\u5728\u306fDHR\u30a2\u30c3\u30bb\u30a4\u306b\u7f6e\u304d\u63db\u3048\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\u89e3\u6790<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>CYBB\u907a\u4f1d\u5b50\u306e\u5909\u7570\u89e3\u6790<\/strong><\/li>\n\n\n\n<li><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5b50\uff08CYBA, NCF1, NCF2, NCF4, CYBC1\uff09\u306e\u89e3\u6790<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul start=\"1\" class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u597d\u4e2d\u7403\u6570\u306f\u6b63\u5e38<\/strong><\/li>\n\n\n\n<li><strong>\u708e\u75c7\u30de\u30fc\u30ab\u30fc\uff08CRP, ESR\uff09\u306e\u4e0a\u6607<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>X\u9023\u9396\u6027\u6162\u6027\u8089\u82bd\u816b\u75c7\uff08CGDX\uff09\u306e\u6cbb\u7642\u306f\u3001\u611f\u67d3\u75c7\u4e88\u9632\u3001\u611f\u67d3\u75c7\u7ba1\u7406\u3001\u708e\u75c7\u5236\u5fa1\u3001\u305d\u3057\u3066\u6839\u6cbb\u7684\u6cbb\u7642\u306e4\u3064\u306e\u67f1\u304b\u3089\u69cb\u6210\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u611f\u67d3\u75c7\u306e\u4e88\u9632\u306b\u306f\u3001<strong>\u30c8\u30ea\u30e1\u30c8\u30d7\u30ea\u30e0\u30fb\u30b9\u30eb\u30d5\u30a1\u30e1\u30c8\u30ad\u30b5\u30be\u30fc\u30eb\uff08ST\u5408\u5264\uff09<\/strong><strong>\u3068<\/strong><strong>\u30a4\u30c8\u30e9\u30b3\u30ca\u30be\u30fc\u30eb\u307e\u305f\u306f\u30dc\u30ea\u30b3\u30ca\u30be\u30fc\u30eb<\/strong>\u306b\u3088\u308b\u6297\u83cc\u30fb\u6297\u771f\u83cc\u4e88\u9632\u304c\u63a8\u5968\u3055\u308c\u308b\u3002\u307e\u305f\u3001\u30a4\u30f3\u30bf\u30fc\u30d5\u30a7\u30ed\u30f3\u03b3\uff08IFN-\u03b3\uff09\u306e\u6295\u4e0e\u306b\u3088\u308a\u3001\u611f\u67d3\u75c7\u306e\u767a\u751f\u983b\u5ea6\u3092\u4f4e\u6e1b\u3055\u305b\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u611f\u67d3\u75c7\u304c\u767a\u75c7\u3057\u305f\u5834\u5408\u306f\u3001\u8fc5\u901f\u306a\u6297\u83cc\u30fb\u6297\u771f\u83cc\u6cbb\u7642\u304c\u5fc5\u8981\u3068\u306a\u308b\u3002\u7279\u306b<strong>\u30a2\u30b9\u30da\u30eb\u30ae\u30eb\u30b9\u3084\u30d0\u30fc\u30af\u30db\u30eb\u30c7\u30ea\u30a2\u30fb\u30bb\u30d1\u30b7\u30a2\u306b\u3088\u308b\u611f\u67d3\u75c7\u306f\u91cd\u7be4\u5316\u3057\u3084\u3059\u3044\u305f\u3081\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u304c\u6c42\u3081\u3089\u308c\u308b\u3002<\/strong><\/p>\n\n\n\n<p>\u708e\u75c7\u7ba1\u7406\u306e\u305f\u3081\u306b\u3001<strong>\u30b9\u30c6\u30ed\u30a4\u30c9\u3084\u514d\u75ab\u6291\u5236\u5264<\/strong>\u304c\u4f7f\u7528\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u304c\u3001\u611f\u67d3\u75c7\u30ea\u30b9\u30af\u3092\u8003\u616e\u3057\u305f\u614e\u91cd\u306a\u6295\u4e0e\u304c\u5fc5\u8981\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u6839\u6cbb\u7684\u6cbb\u7642\u3068\u3057\u3066\u306f\u3001\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09\u304c\u63a8\u5968\u3055\u308c\u308b\u3002\u7279\u306bHLA\u9069\u5408\u30c9\u30ca\u30fc\u304c\u3044\u308b\u5834\u5408\u306b\u306f\u3001\u79fb\u690d\u6210\u529f\u7387\u304c80\uff5e96%\u3068\u9ad8\u304f\u3001\u9577\u671f\u7684\u306a\u4e88\u5f8c\u6539\u5584\u304c\u671f\u5f85\u3055\u308c\u308b\u3002\u8fd1\u5e74\u3067\u306f\u3001HLA\u9069\u5408\u30c9\u30ca\u30fc\u304c\u3044\u306a\u3044\u5834\u5408\u3067\u3082\u30cf\u30d7\u30ed\u79fb\u690d\u304c\u9078\u629e\u80a2\u3068\u306a\u308b\u30b1\u30fc\u30b9\u304c\u5897\u3048\u3066\u304d\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u7814\u7a76\u3082\u9032\u3093\u3067\u304a\u308a\u3001<strong>\u81ea\u5df1\u9020\u8840\u5e79\u7d30\u80de\u3092\u907a\u4f1d\u5b50\u88dc\u6b63\u3059\u308b\u6cbb\u7642\u6cd5\u304c\u958b\u767a\u4e2d\u3067\u3042\u308b\u3002<\/strong><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u4fdd\u5b58\u7684\u6cbb\u7642\u3092\u884c\u3063\u305f\u5834\u5408\u306e<strong>\u4e2d\u592e\u5024\u751f\u5b58\u5e74\u9f62\u306f30\uff5e40\u6b73<\/strong>\u3067\u3042\u308a\u3001\u611f\u67d3\u75c7\u3084\u81ea\u5df1\u708e\u75c7\u304c\u751f\u6d3b\u306e\u8cea\u3092\u4f4e\u4e0b\u3055\u305b\u308b\u4e3b\u8981\u56e0\u3068\u306a\u308b\u3002\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u3092\u53d7\u3051\u305f\u60a3\u8005\u3067\u306f\u3001<strong>\u611f\u67d3\u983b\u5ea6\u306e\u6e1b\u5c11\u3068\u5bff\u547d\u306e\u5ef6\u9577<\/strong>\u304c\u671f\u5f85\u3055\u308c\u3001\u7279\u306b<strong>5\uff5e14\u6b73\u3067\u79fb\u690d\u3092\u53d7\u3051\u305f\u60a3\u8005\u306e\u6210\u7e3e\u304c\u826f\u597d<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u6700\u8fd1\u3067\u306f\u3001<strong>HLA\u4e00\u81f4\u30c9\u30ca\u30fc\u304c\u3044\u306a\u3044\u5834\u5408\u3067\u3082\u30cf\u30d7\u30ed\u79fb\u690d\u304c\u53ef\u80fd<\/strong>\u3068\u306a\u308a\u3001\u591a\u304f\u306e\u60a3\u8005\u304c\u6cbb\u7642\u5bfe\u8c61\u3068\u306a\u308a\u5f97\u308b\u3002\u307e\u305f\u3001<strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u7814\u7a76\u6bb5\u968e\u3067\u3042\u308b\u304c\u3001\u5c06\u6765\u7684\u306b\u306f\u6709\u671b\u306a\u9078\u629e\u80a2<\/strong>\u3068\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.3389\/fped.2024.1384550\">Staudacher, O., &amp; Von Bernuth, H. (2024). Clinical presentation, diagnosis, and treatment of chronic granulomatous disease. <em>Frontiers in Pediatrics<\/em>, <em>12<\/em>, 1384550. https:\/\/doi.org\/10.3389\/fped.2024.1384550<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/cei\/uxad028\">Beaumel, S., Verbrugge, L., Fieschi, F., &amp; Stasia, M. J. (2023). CRISPR-gene-engineered <em>CYBB<\/em> knock-out PLB-985 cells, a useful model to study functional impact of X-linked chronic granulomatous disease mutations: Application to the G412E X91+-CGD mutation. <em>Clinical and Experimental Immunology<\/em>, <em>212<\/em>(2), 156\u2013165. https:\/\/doi.org\/10.1093\/cei\/uxad028<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.hmedic.2024.100060\">Wilson, B. E., Basu, A., Sacco, K., &amp; Abraham, R. S. (2024). Novel intronic variant in CYBB causing X-linked chronic granulomatous disease: Case report. <em>Medical Reports<\/em>, <em>5<\/em>, 100060. https:\/\/doi.org\/10.1016\/j.hmedic.2024.100060<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/antiox10060891\">Chiriaco, M., Salfa, I., Ursu, G. M., Cifaldi, C., Di Cesare, S., Rossi, P., Di Matteo, G., &amp; Finocchi, A. (2021). Immunological aspects of x-linked chronic granulomatous disease female carriers. <em>Antioxidants<\/em>, <em>10<\/em>(6), 891. https:\/\/doi.org\/10.3390\/antiox10060891<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13052-023-01496-7\">Gul, I., Khan, T.A., Akbar, N.u. <em>et al.<\/em> Novel mutations in <em>CYBB<\/em> Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients. <em>Ital J Pediatr<\/em> <strong>49<\/strong>, 95 (2023). https:\/\/doi.org\/10.1186\/s13052-023-01496-7<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.clim.2024.110364\">Miranda, M. A., Tsalatsanis, A., Trotter, J. R., Arnold, D. E., Squire, J. D., Kidd, S., Parikh, S., Marsh, R. A., Griffith, L. M., Mallhi, K., Chellapandian, D., Lim, S. S., Grunebaum, E., Sullivan, K. E., Newburger, P. E., Dinauer, M. C., Cowan, M. J., Dvorak, C. C., Haddad, E., \u2026 Leiding, J. W. (2024). High symptom burden in female X-linked chronic granulomatous disease carriers. <em>Clinical Immunology<\/em>, <em>268<\/em>, 110364. https:\/\/doi.org\/10.1016\/j.clim.2024.110364<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s10875-023-01556-x\">Batlle-Mas\u00f3, L., Rivi\u00e8re, J.G., Franco-Jarava, C. <em>et al.<\/em> Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism. <em>J Clin Immunol<\/em> <strong>43<\/strong>, 1953\u20131963 (2023). https:\/\/doi.org\/10.1007\/s10875-023-01556-x<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1097\/MD.0000000000028875\">Zhang, J., Fan, M., Chen, M., Wang, H., Miao, N., Yu, H., Zhang, L., Deng, Q., &amp; Yi, C. (2022). Identification of a novel mutation in CYBB gene in a Chinese neonate with X-linked chronic granulomatous disease: A case report. <em>Medicine<\/em>, <em>101<\/em>(10), e28875. https:\/\/doi.org\/10.1097\/MD.0000000000028875<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>X\u9023\u9396\u6027\u6162\u6027\u8089\u82bd\u816b\u75c7, CGDX, CYBB\u907a\u4f1d\u5b50, NADPH\u30aa\u30ad\u30b7\u30c0\u30fc\u30bc, \u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d, \u907a\u4f1d\u5b50\u6cbb\u7642, \u597d\u4e2d\u7403\u6a5f\u80fd\u7570\u5e38, \u514d\u75ab\u4e0d\u5168\u75c7, \u8089\u82bd\u816b\u6027\u75be\u60a3, \u611f\u67d3\u75c7\u30ea\u30b9\u30af, \u30d5\u30ed\u30fc\u30b5\u30a4\u30c8\u30e1\u30c8\u30ea\u30fc, \u907a\u4f1d\u5b50\u5909\u7570<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60362","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\/60362","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":6,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60362\/revisions"}],"predecessor-version":[{"id":128114,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60362\/revisions\/128114"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60362"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}