{"id":61559,"date":"2023-09-01T13:04:19","date_gmt":"2023-09-01T04:04:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=61559"},"modified":"2026-05-08T13:45:39","modified_gmt":"2026-05-08T04:45:39","slug":"congenital-hypospadias","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-hypospadias\/","title":{"rendered":"VPS45\u95a2\u9023\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\uff08SCN5\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>VPS45\u95a2\u9023\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\uff08SCN5\uff09\u306f\u3001\u91cd\u5ea6\u306e\u597d\u4e2d\u7403\u6e1b\u5c11\u3068\u514d\u75ab\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3059\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001SCN5\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u9078\u629e\u80a2\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3001\u6700\u65b0\u306e\u7814\u7a76\u52d5\u5411\u3082\u7d39\u4ecb\u3057\u307e\u3059\u3002\u65e9\u671f\u767a\u898b\u3068\u9069\u5207\u306a\u7ba1\u7406\u304c\u9375\u3068\u306a\u308b\u3053\u306e\u75be\u60a3\u306b\u3064\u3044\u3066\u3001\u5c02\u9580\u7684\u304b\u3064\u5206\u304b\u308a\u3084\u3059\u304f\u304a\u4f1d\u3048\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>VPS45\uff5cCongenital Neutropenia (VPS45-related)<\/p>\n\n\n\n<p><sup>Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome; Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome; Neutropenia, Severe Congenital, 5, Autosomal Recessive; Vacuolar Sorting Protein 45 Deficiency<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>VPS45\u95a2\u9023\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\uff08Severe Congenital Neutropenia-5, SCN5\uff09\u306f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u539f\u767a\u6027\u514d\u75ab\u4e0d\u5168\u75c7\u306e\u4e00\u7a2e\u3067\u3042\u308a\u3001\u91cd\u5ea6\u306e\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u304a\u3088\u3073\u597d\u4e2d\u7403\u6a5f\u80fd\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002\u60a3\u8005\u306f\u9846\u7c92\u7403\u30b3\u30ed\u30cb\u30fc\u523a\u6fc0\u56e0\u5b50\uff08G-CSF\uff09\u306b\u5bfe\u3059\u308b\u53cd\u5fdc\u304c\u4e4f\u3057\u304f\u3001\u81f4\u547d\u7684\u306a\u611f\u67d3\u75c7\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3002\u307e\u305f\u3001\u9aa8\u9ac4\u7dda\u7dad\u75c7\u3084\u814e\u5916\u9020\u8840\u3092\u4f34\u3046\u814e\u816b\u5927\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u3055\u3089\u306b\u3001\u767a\u9054\u9045\u5ef6\u3001\u76ae\u8cea\u76f2\u3001\u96e3\u8074\u3001\u8133\u6881\u306e\u83f2\u8584\u5316\u3001\u8133\u6ce2\u7570\u5e38\u306a\u3069\u306e\u795e\u7d4c\u5b66\u7684\u7570\u5e38\u304c\u4e00\u90e8\u306e\u60a3\u8005\u3067\u8a8d\u3081\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>SCN5\u306fVPS45\u907a\u4f1d\u5b50\u306e\u30db\u30e2\u63a5\u5408\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7d30\u80de\u5185\u5c0f\u80de\u8f38\u9001\u304a\u3088\u3073\u30b4\u30eb\u30b8\u4f53\u5185\u8f38\u9001\u306b\u95a2\u4e0e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6a5f\u80fd\u7570\u5e38\u304c\u597d\u4e2d\u7403\u306e\u767a\u751f\u3084\u6a5f\u80fd\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>SCN5\u306e\u767a\u751f\u7387\u306f\u6975\u3081\u3066\u4f4e\u304f\u3001\u4e16\u754c\u7684\u306a\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u3042\u305f\u308a1\u4eba\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u308b\u3002\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u6570\u306f20\u4f8b\u7a0b\u5ea6\u3067\u3042\u308a\u3001\u5927\u90e8\u5206\u306e\u60a3\u8005\u304c\u4e73\u5150\u671f\u306b\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u3002\u7279\u306b\u65b0\u751f\u5150\u671f\u304b\u3089\u91cd\u7be4\u306a\u611f\u67d3\u75c7\u3092\u767a\u75c7\u3057\u3084\u3059\u304f\u3001\u9069\u5207\u306a\u6cbb\u7642\u304c\u884c\u308f\u308c\u306a\u3044\u5834\u5408\u3001\u65e9\u671f\u6b7b\u4ea1\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>SCN5\u306f\u3001VPS45\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002VPS45\u306fSec1\/Munc18\uff08SM\uff09\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3057\u3001\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u7cfb\u3092\u4ecb\u3057\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u8f38\u9001\u3092\u5236\u5fa1\u3059\u308b\u5f79\u5272\u3092\u6301\u3064\u3002VPS45\u6b20\u640d\u306b\u3088\u308a\u3001\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u6210\u719f\u306e\u7570\u5e38\u3001\u9846\u7c92\u7403\u524d\u99c6\u7d30\u80de\u306e\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\u4fc3\u9032\u3001\u597d\u4e2d\u7403\u306e\u7d30\u80de\u5185\u8f38\u9001\u969c\u5bb3\u306a\u3069\u304c\u751f\u3058\u308b\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001VPS45\u907a\u4f1d\u5b50\u5909\u7570\u306fG-CSF\u53d7\u5bb9\u4f53\uff08CSF3R\uff09\u306e\u8aa4\u3063\u305f\u8f38\u9001\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001G-CSF\u7642\u6cd5\u306b\u5bfe\u3059\u308b\u62b5\u6297\u6027\u3092\u793a\u3059\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u597d\u4e2d\u7403\u7523\u751f\u306e\u5897\u5f37\u304c\u56f0\u96e3\u3068\u306a\u308a\u3001\u6301\u7d9a\u7684\u306a\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u304c\u767a\u751f\u3059\u308b\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>SCN5\u306e\u4e3b\u8981\u306a\u81e8\u5e8a\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3042\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7<\/strong>\uff1a\u51fa\u751f\u76f4\u5f8c\u304b\u3089\u767a\u75c7\u3057\u3001G-CSF\u6cbb\u7642\u306b\u62b5\u6297\u6027\u3092\u793a\u3059<\/li>\n\n\n\n<li><strong>\u518d\u767a\u6027\u306e\u91cd\u7be4\u306a\u611f\u67d3\u75c7<\/strong>\uff1a\u80ba\u708e\u3001\u6557\u8840\u75c7\u3001\u76ae\u819a\u611f\u67d3\u75c7\u3001\u6df1\u5728\u6027\u81bf\u760d\u306a\u3069<\/li>\n\n\n\n<li><strong>\u9aa8\u9ac4\u7dda\u7dad\u75c7<\/strong>\uff1a\u9aa8\u9ac4\u306e\u7dda\u7dad\u5316\u304c\u9032\u884c\u3057\u3001\u9020\u8840\u6a5f\u80fd\u304c\u4f4e\u4e0b<\/li>\n\n\n\n<li><strong>\u814e\u5916\u9020\u8840\u306b\u3088\u308b\u814e\u816b\u5927<\/strong><\/li>\n\n\n\n<li><strong>\u8840\u6db2\u7570\u5e38<\/strong>\uff1a\u8840\u5c0f\u677f\u6e1b\u5c11\u75c7\uff08\u8840\u5c0f\u677f\u6e1b\u5c11\uff09\u3001\u9ad8\u30ac\u30f3\u30de\u30b0\u30ed\u30d6\u30ea\u30f3\u8840\u75c7\u3001\u7db2\u72b6\u8d64\u8840\u7403\u5897\u52a0\u3092\u4f34\u3046\u8ca7\u8840<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u5b66\u7684\u7570\u5e38<\/strong>\uff08\u4e00\u90e8\u306e\u75c7\u4f8b\uff09\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9045\u5ef6<\/li>\n\n\n\n<li>\u76ae\u8cea\u76f2<\/li>\n\n\n\n<li>\u96e3\u8074<\/li>\n\n\n\n<li>\u8133\u6881\u83f2\u8584\u5316<\/li>\n\n\n\n<li>\u8133\u6ce2\u7570\u5e38<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u7570\u5e38<\/strong>\uff1a\u9aa8\u786c\u5316\u75c7\u306e\u5831\u544a\u3042\u308a<\/li>\n<\/ul>\n\n\n\n<div style=\"height:25px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>SCN5\u306e\u8a3a\u65ad\u306b\u306f\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u6709\u52b9\u3067\u3042\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8840\u6db2\u691c\u67fb<\/strong>\uff1a\u6301\u7d9a\u7684\u306a\u597d\u4e2d\u7403\u6e1b\u5c11\uff08\u7d76\u5bfe\u597d\u4e2d\u7403\u6570 &lt;0.5\u00d710\u2079\/L\uff09<\/li>\n\n\n\n<li><strong>\u9aa8\u9ac4\u691c\u67fb<\/strong>\uff1a\u597d\u4e2d\u7403\u5206\u5316\u306e\u505c\u6b62\uff08\u9846\u7c92\u7403\u524d\u99c6\u7d30\u80de\u30ec\u30d9\u30eb\u3067\u306e\u6210\u719f\u505c\u6b62\uff09\u3001\u9aa8\u9ac4\u7dda\u7dad\u75c7\u306e\u78ba\u8a8d<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1aVPS45\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306e\u7279\u5b9a<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u5b66\u7684\u691c\u67fb<\/strong>\uff1aT\u7d30\u80de\u3001NK\u7d30\u80de\u306e\u7570\u5e38\u304c\u793a\u5506\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308b<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb<\/strong>\uff1a\u814e\u816b\u5927\u3001\u813e\u816b\u3001\u809d\u816b\u5927\u306e\u78ba\u8a8d<\/li>\n<\/ul>\n\n\n\n<div style=\"height:25px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3092\u7528\u3044\u305f\u907a\u4f1d\u5b50\u89e3\u6790\u304c\u63a8\u5968\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>SCN5\u306f\u9032\u884c\u6027\u304b\u3064\u81f4\u547d\u7684\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u6cbb\u7642\u306f\u4e3b\u306b\u4ee5\u4e0b\u306e\u624b\u6bb5\u304c\u3068\u3089\u308c\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u751f\u7269\u8cea\u306b\u3088\u308b\u611f\u67d3\u7ba1\u7406<\/strong>\uff1a\u5e83\u57df\u30b9\u30da\u30af\u30c8\u30eb\u6297\u83cc\u85ac\u306b\u3088\u308b\u4e88\u9632\u7684\u6297\u83cc\u7642\u6cd5<\/li>\n\n\n\n<li><strong>G-CSF\u7642\u6cd5<\/strong>\uff1a\u6709\u52b9\u6027\u306f\u4f4e\u3044\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u90e8\u5206\u7684\u306a\u52b9\u679c\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308b<\/li>\n\n\n\n<li><strong>\u8f38\u8840\u7642\u6cd5<\/strong>\uff1a\u8ca7\u8840\u304a\u3088\u3073\u8840\u5c0f\u677f\u6e1b\u5c11\u75c7\u306e\u7ba1\u7406\u306e\u305f\u3081\u306e\u8840\u6db2\u30fb\u8840\u5c0f\u677f\u8f38\u8840<\/li>\n\n\n\n<li><strong>JAK1\/JAK2\u963b\u5bb3\u5264\uff08\u30eb\u30ad\u30bd\u30ea\u30c1\u30cb\u30d6\uff09<\/strong>\uff1a\u809d\u813e\u816b\u306e\u7e2e\u5c0f\u306b\u6709\u52b9\u3068\u3055\u308c\u308b\u5831\u544a\u3042\u308a<\/li>\n\n\n\n<li><strong>\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09<\/strong>\uff1a\u552f\u4e00\u306e\u6839\u6cbb\u7684\u6cbb\u7642\u6cd5\u3067\u3042\u308a\u3001\u65e9\u671f\u79fb\u690d\u304c\u63a8\u5968\u3055\u308c\u308b<\/li>\n<\/ul>\n\n\n\n<div style=\"height:25px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>HSCT\u306e\u6210\u529f\u7387\u306f\u7d0470%\u3068\u3055\u308c\u308b\u304c\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u79fb\u690d\u7247\u62d2\u7d76\u3084\u79fb\u690d\u5f8c\u306e\u5408\u4f75\u75c7\u304c\u751f\u3058\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>SCN5\u306e\u4e88\u5f8c\u306f\u6975\u3081\u3066\u53b3\u3057\u304f\u3001\u9069\u5207\u306a\u6cbb\u7642\u304c\u884c\u308f\u308c\u306a\u3051\u308c\u3070\u65b0\u751f\u5150\u671f\u304b\u3089\u4e73\u5150\u671f\u306b\u304b\u3051\u3066\u9ad8\u7387\u3067\u6b7b\u4ea1\u3059\u308b\u3002\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306e\u591a\u304f\u3067\u306f\u3001G-CSF\u7642\u6cd5\u306b\u53cd\u5fdc\u305b\u305a\u3001\u91cd\u7be4\u306a\u611f\u67d3\u75c7\u3084\u9aa8\u9ac4\u4e0d\u5168\u306e\u9032\u884c\u306b\u3088\u308a1\u6b73\u672a\u6e80\u3067\u6b7b\u4ea1\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>HSCT\u3092\u53d7\u3051\u305f\u60a3\u8005\u306e\u751f\u5b58\u7387\u306f\u6bd4\u8f03\u7684\u9ad8\u3044\u304c\u3001\u79fb\u690d\u5f8c\u306e\u5408\u4f75\u75c7\u3084\u9577\u671f\u7684\u306a\u514d\u75ab\u6291\u5236\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u306a\u308b\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u795e\u7d4c\u5b66\u7684\u5f8c\u907a\u75c7\u3092\u4f34\u3046\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u8a3a\u65ad\u3068\u8fc5\u901f\u306a\u6cbb\u7642\u4ecb\u5165\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u7279\u306bG-CSF\u975e\u53cd\u5fdc\u6027\u306e\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u304c\u8a8d\u3081\u3089\u308c\u305f\u5834\u5408\u306b\u306f\u3001VPS45\u95a2\u9023SCN\u306e\u53ef\u80fd\u6027\u3092\u5ff5\u982d\u306b\u7f6e\u3044\u305f\u7cbe\u67fb\u304c\u63a8\u5968\u3055\u308c\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\/10.1182\/hematology.2021000285\">Walkovich, K., &amp; Connelly, J. A. (2021). Understanding neutropenia secondary to intrinsic or iatrogenic immune dysregulation. <em>Hematology<\/em>, <em>2021<\/em>(1), 504\u2013513. https:\/\/doi.org\/10.1182\/hematology.2021000285<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.21911\/aai.2024.617\">Kostel Bal, S., Islamoglu, C., Haskologlu, S., Karaman, S., Jimenez-Heredia, R., Segarra Roca, A., Genel, F., Gulez, N., Aytekin, C., Boztug, K., Dogu, F., &amp; Ikinciogullari, A. (2024). Extended phenotype of vps45 defect with additional features of combined immunodeficiency and neuromotor developmental delay along with severe congenital neutropenia. <em>Asthma Allergy Immunology<\/em>, 269\u2013276. https:\/\/doi.org\/10.21911\/aai.2024.617<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.5282\/EDOC.29256\">Frey, L. (2022). <em>Molecular mechanisms of severe congenital neutropenia (Scn) associated with deficiencies in vacuolar protein sorting homolog 45 (Vps45)<\/em> [Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen]. https:\/\/doi.org\/10.5282\/EDOC.29256<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1182\/blood-2023-183059\">Ueki, M., Hirabayashi, S., Sajiki, D., Hasegawa, M., Terashita, Y., Ohata, H., Wakamatsu, M., Takezaki, S., Cho, Y., Nakabayashi, K., Muramatsu, H., Yamada, T., Takahashi, Y., &amp; Manabe, A. (2023). Severe congenital neutropenia-type 5: Impaired t cell proliferation, aberrant th1 cytokine production, abnormal megakaryocytes, and impaired platelet granule formation in a patient with vps45 deficiency caused by uniparental isodisomy. <em>Blood<\/em>, <em>142<\/em>(Supplement 1), 5382\u20135382. https:\/\/doi.org\/10.1182\/blood-2023-183059<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1182\/blood-2023-189775\">Zeytinoglu, U. E., Gumruk, F., &amp; Unal Cangul, S. (2023). A single-center large cohort of chronic neutropenia patients and a model for estimation of congenital neutropenias. <em>Blood<\/em>, <em>142<\/em>(Supplement 1), 2541\u20132541. https:\/\/doi.org\/10.1182\/blood-2023-189775<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.htct.2023.09.041\">Yozgat, A. K., Kurtipek, F. B., G\u00fczelk\u00fc\u00e7\u00fck, Z., Ka\u00e7ar, D., Bayhan, T., \u00d6zbek, N. Y., &amp; Yaral\u0131, N. (2023). A next-generation sequencing test for congenital neutropenia in pediatric patients. <em>Hematology, Transfusion and Cell Therapy<\/em>, <em>45<\/em>, S25. https:\/\/doi.org\/10.1016\/j.htct.2023.09.041<\/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>VPS45, SCN5, \u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7, \u597d\u4e2d\u7403\u6e1b\u5c11, G-CSF\u62b5\u6297\u6027, \u514d\u75ab\u4e0d\u5168, \u9aa8\u9ac4\u7dda\u7dad\u75c7, \u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d, \u907a\u4f1d\u6027\u75be\u60a3, \u814e\u5916\u9020\u8840, T\u7d30\u80de\u6e1b\u5c11, JAK\u963b\u5bb3\u5264<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-61559","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\/61559","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":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/61559\/revisions"}],"predecessor-version":[{"id":128119,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/61559\/revisions\/128119"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=61559"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}