{"id":33649,"date":"2022-07-11T17:28:54","date_gmt":"2022-07-11T08:28:54","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33649"},"modified":"2026-04-28T13:49:27","modified_gmt":"2026-04-28T04:49:27","slug":"congenital-neutropenia-hax1-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-neutropenia-hax1-related\/","title":{"rendered":"\u91cd\u75c7\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7(HAX1\u95a2\u9023)"},"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>HAX1\u95a2\u9023\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\uff08HAX1-CN\uff09\u306f\u3001HAX1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u672c\u75be\u60a3\u306e\u7279\u5fb4\u306f\u3001\u6301\u7d9a\u7684\u306a\u91cd\u5ea6\u306e\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u306b\u3088\u308b\u7d30\u83cc\u611f\u67d3\u306e\u30ea\u30b9\u30af\u5897\u52a0\u306b\u52a0\u3048\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u795e\u7d4c\u767a\u9054\u9045\u5ef6\u3084\u6027\u817a\u6a5f\u80fd\u4e0d\u5168\u3092\u4f34\u3046\u3053\u3068\u3067\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u6cbb\u7642\u304c\u91cd\u8981\u3067\u3042\u308a\u3001G-CSF\u7642\u6cd5\u3084\u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\u304c\u6cbb\u7642\u306e\u9078\u629e\u80a2\u3068\u306a\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001HAX1-CN\u306e\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6226\u7565\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>HAX1\uff5cCongenital Neutropenia (HAX1-related)<\/p>\n\n\n\n<p><sup>Neutropenia, Severe Congenital, 3, Autosomal Recessive; Kostmann Disease<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>HAX1\u95a2\u9023\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\uff08HAX1-CN\uff09\u306f\u3001HAX1\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\uff08\u6709\u5bb3\u5909\u7570\uff09\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u672c\u75be\u60a3\u3067\u306f\u3001\u9aa8\u9ac4\u306e\u6a5f\u80fd\u4e0d\u5168\u306b\u3088\u308a\u3001\u51fa\u751f\u6642\u304b\u3089\u6301\u7d9a\u7684\u306a\u91cd\u5ea6\u306e\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u304c\u751f\u3058\u307e\u3059\u3002\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\uff08neutropenia\uff09\u3068\u306f\u3001\u8840\u6db2\u4e2d\u306e\u597d\u4e2d\u7403\uff08\u611f\u67d3\u9632\u5fa1\u306b\u91cd\u8981\u306a\u767d\u8840\u7403\u306e\u4e00\u7a2e\uff09\u304c\u6975\u7aef\u306b\u5c11\u306a\u3044\u72b6\u614b\u3067\u3042\u308a\u3001\u4e00\u822c\u306b\u597d\u4e2d\u7403\u6570\u304c0.5 \u00d7 10\u2079\/L\u672a\u6e80\u306e\u5834\u5408\u306b\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002HAX1-CN\u306e\u60a3\u8005\u306f\u91cd\u7be4\u306a\u7d30\u83cc\u611f\u67d3\u75c7\u306b\u7f79\u60a3\u3057\u3084\u3059\u304f\u3001\u751f\u547d\u3092\u8105\u304b\u3059\u611f\u67d3\u75c7\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u672c\u75be\u60a3\u3067\u306f\u3001\u795e\u7d4c\u5b66\u7684\u7570\u5e38\u3084\u6027\u817a\u6a5f\u80fd\u4e0d\u5168\uff08\u751f\u6b96\u6a5f\u80fd\u969c\u5bb3\uff09\u3092\u4f75\u767a\u3059\u308b\u30b1\u30fc\u30b9\u304c\u3042\u308a\u3001\u9aa8\u9ac4\u7570\u5f62\u6210\u75c7\u5019\u7fa4\uff08MDS\uff09\u3084\u6025\u6027\u9aa8\u9ac4\u6027\u767d\u8840\u75c5\uff08AML\uff09\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u3082\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>\u91cd\u75c7\u5148\u5929\u6027\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\uff08SCN\uff09\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u305d\u306e\u4e2d\u3067\u3082\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u578b\uff08\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u5909\u7570\u3092\u53d7\u3051\u53d6\u308b\u30bf\u30a4\u30d7\uff09\u306f\u3001\u8fd1\u89aa\u5a5a\u306e\u5272\u5408\u304c\u9ad8\u3044\u96c6\u56e3\u3067\u3088\u308a\u983b\u7e41\u306b\u898b\u3089\u308c\u307e\u3059\u3002HAX1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u4e2d\u6771\u3001\u30b9\u30a6\u30a7\u30fc\u30c7\u30f3\u3001\u65e5\u672c\u306a\u3069\u306e\u7279\u5b9a\u306e\u5730\u57df\u3067\u6bd4\u8f03\u7684\u9ad8\u3044\u983b\u5ea6\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u304b\u3064\u3066\u306f\u3001SCN\u60a3\u8005\u306e\u591a\u304f\u304c\u7d30\u83cc\u611f\u67d3\u306b\u3088\u308b\u9ad8\u3044\u6b7b\u4ea1\u7387\u3092\u793a\u3057\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u3067\u306f\u9846\u7c92\u7403\u30b3\u30ed\u30cb\u30fc\u523a\u6fc0\u56e0\u5b50\uff08G-CSF\uff09\u7642\u6cd5\u306e\u5c0e\u5165\u306b\u3088\u308a\u3001\u611f\u67d3\u75c7\u306e\u7ba1\u7406\u304c\u5411\u4e0a\u3057\u3001\u751f\u5b58\u7387\u304c\u5927\u5e45\u306b\u6539\u5584\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>HAX1\u907a\u4f1d\u5b50\uff081q21.3\uff09\u306f\u3001HCLS1\u95a2\u9023\u30bf\u30f3\u30d1\u30af\u8ceaX-1\uff08HCLS1-associated protein X-1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u7d30\u80de\u9aa8\u683c\u306e\u518d\u7de8\u6210\u3001\u7d30\u80de\u306e\u79fb\u52d5\u3001\u305d\u3057\u3066\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u306e\u7dad\u6301\u306b\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u597d\u4e2d\u7403\u306e\u767a\u9054\u904e\u7a0b\u3067\u3042\u308b\u9846\u7c92\u7403\u9020\u8840\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306eHAX1\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u304c\u751f\u3058\u308b\u3068\u3001\u597d\u4e2d\u7403\u306e\u6210\u719f\u304c\u524d\u9aa8\u9ac4\u7403\u306e\u6bb5\u968e\u3067\u505c\u6b62\u3059\u308b\u300cmaturation arrest\uff08\u6210\u719f\u505c\u6b62\uff09\u300d\u304c\u767a\u751f\u3057\u3001\u305d\u306e\u7d50\u679c\u3068\u3057\u3066\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u4e00\u90e8\u306e\u5909\u7570\u306f\u795e\u7d4c\u7cfb\u306b\u3082\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5177\u4f53\u7684\u306b\u306f\u3001HAX1\u306e\u30a2\u30a4\u30bd\u30d5\u30a9\u30fc\u30e01\u306e\u307f\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u5909\u7570\u3067\u306f\u3001\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u306e\u307f\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001HAX1\u306e\u30a2\u30a4\u30bd\u30d5\u30a9\u30fc\u30e01\u3068\u30a2\u30a4\u30bd\u30d5\u30a9\u30fc\u30e05\u306e\u4e21\u65b9\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u5909\u7570\u3067\u306f\u3001\u795e\u7d4c\u767a\u9054\u9045\u5ef6\u3084\u3066\u3093\u304b\u3093\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u52a0\u3048\u3066\u3001CLPB\u907a\u4f1d\u5b50\u3068\u306e\u76f8\u4e92\u4f5c\u7528\u3082\u6307\u6458\u3055\u308c\u3066\u304a\u308a\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u969c\u5bb3\u304c\u672c\u75be\u60a3\u306e\u75c5\u614b\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n<h3 class=\"hidden-heading\"><\/h3>\n\n\n\n<p>HAX1-CN\u306f\u4e3b\u306b\u91cd\u5ea6\u306e\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\u3068\u3057\u3066\u73fe\u308c\u307e\u3059\u304c\u3001\u305d\u308c\u306b\u52a0\u3048\u3066\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5168\u8eab\u6027\u306e\u5408\u4f75\u75c7\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">\u8840\u6db2\u5b66\u7684\u7279\u5fb4\uff08Hematological Features\uff09<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6301\u7d9a\u7684\u306a\u91cd\u5ea6\u306e\u597d\u4e2d\u7403\u6e1b\u5c11\u75c7\uff08ANC &lt; 0.5 \u00d7 10\u2079\/L\uff09<\/li>\n\n\n\n<li>\u9aa8\u9ac4\u691c\u67fb\u3067\u597d\u4e2d\u7403\u306e\u6210\u719f\u505c\u6b62\uff08\u524d\u9aa8\u9ac4\u7403\u6bb5\u968e\uff09<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u7d30\u83cc\u611f\u67d3\u75c7\uff08\u80ba\u708e\u3001\u8702\u7aa9\u7e54\u708e\u3001\u6b6f\u5468\u75c5\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u81bf\u304c\u5f62\u6210\u3055\u308c\u306b\u304f\u3044\uff08\u597d\u4e2d\u7403\u304c\u4e0d\u8db3\u3057\u3066\u3044\u308b\u305f\u3081\uff09<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">\u795e\u7d4c\u5b66\u7684\u7570\u5e38\uff08Neurological Symptoms\uff09<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9045\u6ede\uff08Developmental delay\uff09<\/li>\n\n\n\n<li>\u8a8d\u77e5\u6a5f\u80fd\u969c\u5bb3\uff08Cognitive impairment\uff09<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\uff08Epileptic seizures\uff09\uff08\u7279\u306bHAX1\u30a2\u30a4\u30bd\u30d5\u30a9\u30fc\u30e05\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u5909\u7570\uff09<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">\u6027\u817a\u30fb\u751f\u6b96\u6a5f\u80fd\u7570\u5e38\uff08Gonadal and Reproductive Abnormalities\uff09<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u601d\u6625\u671f\u65e9\u671f\u306e\u5375\u5de3\u6a5f\u80fd\u4e0d\u5168\uff08POI\uff09\uff08\u5973\u6027\uff09<\/li>\n\n\n\n<li>\u601d\u6625\u671f\u524d\u306e\u751f\u6b96\u6a5f\u80fd\u4e0d\u5168\u306e\u30ea\u30b9\u30af\uff08\u5973\u6027\uff09<\/li>\n\n\n\n<li>\u7537\u6027\u306b\u304a\u3051\u308b\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3001\u505c\u7559\u7cbe\u5de3\u3001\u5c3f\u9053\u4e0b\u88c2<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>HAX1-CN\u306f\u3001\u751f\u5f8c\u6570\u30ab\u6708\u4ee5\u5185\u306b\u91cd\u5ea6\u306e\u7d30\u83cc\u611f\u67d3\u304c\u983b\u767a\u3059\u308b\u3053\u3068\u3067\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u691c\u67fb\uff1a\u6301\u7d9a\u7684\u306a\u597d\u4e2d\u7403\u6e1b\u5c11\uff08ANC &lt; 0.5 \u00d7 10\u2079\/L\uff09<\/li>\n\n\n\n<li>\u9aa8\u9ac4\u691c\u67fb\uff1a\u597d\u4e2d\u7403\u306e\u767a\u9054\u304c\u524d\u9aa8\u9ac4\u7403\u6bb5\u968e\u3067\u505c\u6b62<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u691c\u67fb\uff1aHAX1\u907a\u4f1d\u5b50\u306e\u30db\u30e2\u63a5\u5408\u6027\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u5909\u7570\u306e\u78ba\u8a8d<\/li>\n\n\n\n<li>\u88dc\u52a9\u7684\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\uff1a\u5358\u7403\u3084\u597d\u9178\u7403\u306e\u5897\u52a0<\/li>\n<\/ul>\n\n\n\n<p>\u306a\u304a\u3001\u795e\u7d4c\u75c7\u72b6\uff08\u3066\u3093\u304b\u3093\u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306fHAX1\u95a2\u9023SCN\u306e\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n<h3 class=\"hidden-heading\"><\/h3>\n\n\n\n<p>HAX1-CN\u306e\u6cbb\u7642\u306e\u4e3b\u76ee\u7684\u306f\u3001\u91cd\u7be4\u306a\u7d30\u83cc\u611f\u67d3\u3092\u4e88\u9632\u3057\u3001\u9577\u671f\u7684\u306a\u751f\u5b58\u7387\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">1. \u9846\u7c92\u7403\u30b3\u30ed\u30cb\u30fc\u523a\u6fc0\u56e0\u5b50\uff08G-CSF\uff09\u7642\u6cd5<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u597d\u4e2d\u7403\u6570\u3092\u5897\u52a0\u3055\u305b\u3001\u611f\u67d3\u30ea\u30b9\u30af\u3092\u8efd\u6e1b<\/li>\n\n\n\n<li>HAX1-CN\u306e\u307b\u307c\u5168\u4f8b\u304cG-CSF\u7642\u6cd5\u306b\u826f\u597d\u306b\u53cd\u5fdc<\/li>\n\n\n\n<li>\u9577\u671f\u7684\u306aG-CSF\u6295\u4e0e\u306b\u3088\u308a\u611f\u67d3\u7ba1\u7406\u304c\u53ef\u80fd<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">2. \u9020\u8840\u5e79\u7d30\u80de\u79fb\u690d\uff08HSCT\uff09<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u73fe\u6642\u70b9\u3067\u552f\u4e00\u306e\u6839\u6cbb\u7642\u6cd5<\/li>\n\n\n\n<li>G-CSF\u62b5\u6297\u6027\u3001\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u3001\u767d\u8840\u75c5\u3078\u306e\u9032\u884c\u304c\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u306b\u9069\u5fdc<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\">3. \u652f\u6301\u7642\u6cd5\uff08Supportive Care\uff09<\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u611f\u67d3\u75c7\u306b\u5bfe\u3059\u308b\u65e9\u671f\u6297\u83cc\u7642\u6cd5<\/li>\n\n\n\n<li>MDS\u3084AML\u306e\u767a\u75c7\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/li>\n\n\n\n<li>\u795e\u7d4c\u767a\u9054\u30fb\u751f\u6b96\u6a5f\u80fd\u306e\u5b9a\u671f\u7684\u8a55\u4fa1<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>\u9069\u5207\u306a\u6cbb\u7642\u3092\u53d7\u3051\u305f\u5834\u5408\u3001HAX1-CN\u306e\u751f\u5b58\u7387\u306f\u5927\u5e45\u306b\u5411\u4e0a\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>G-CSF\u6cbb\u7642\u304c\u5c0e\u5165\u3055\u308c\u308b\u524d\u306f\u6b7b\u4ea1\u738780%\u4ee5\u4e0a<\/li>\n\n\n\n<li>\u73fe\u5728\u306f\u9069\u5207\u306a\u7ba1\u7406\u306b\u3088\u308a80%\u4ee5\u4e0a\u306e\u60a3\u8005\u304c\u9577\u671f\u751f\u5b58<\/li>\n\n\n\n<li>\u305f\u3060\u3057G-CSF\u7121\u53cd\u5fdc\u4f8b\u3067\u306f\u6557\u8840\u75c7\uff08sepsis\uff09\u306b\u3088\u308b\u6b7b\u4ea1\u304c\u7d0410%<\/li>\n<\/ul>\n\n\n\n<div style=\"height:12px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u307e\u305f\u3001HAX1-CN\u60a3\u8005\u306e\u7d041\/3\u304cCSF3R\u907a\u4f1d\u5b50\u5909\u7570\u3092\u7372\u5f97\u3057\u3001AML\u3078\u9032\u884c\u3059\u308b\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u6027\u817a\u6a5f\u80fd\u4e0d\u5168\u3082\u5927\u304d\u306a\u8ab2\u984c\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u7279\u306b\u5973\u6027\u3067\u306f\u751f\u6b96\u6a5f\u80fd\u306e\u5b9a\u671f\u7684\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eca\u5f8c\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u3001\u672c\u75be\u60a3\u306e\u5168\u8eab\u7684\u306a\u5f71\u97ff\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\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\/blood-2007-11-120667\">Germeshausen, M., Grudzien, M., Zeidler, C., Abdollahpour, H., Yetgin, S., Rezaei, N., Ballmaier, M., Grimbacher, B., Welte, K., &amp; Klein, C. (2008). Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. <em>Blood<\/em>, <em>111<\/em>(10), 4954\u20134957. https:\/\/doi.org\/10.1182\/blood-2007-11-120667<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/9058808\/\" data-type=\"link\" data-id=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/9058808\/\">Suzuki, Y., Demoliere, C., Kitamura, D., Takeshita, H., Deuschle, U., &amp; Watanabe, T. (1997). HAX-1, a novel intracellular protein, localized on mitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases. <em>Journal of immunology (Baltimore, Md. : 1950)<\/em>, <em>158<\/em>(6), 2736\u20132744.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/B978-0-12-816768-7.00035-1\">Klein, C. (2020). Congenital neutropenia. In <em>Stiehm\u2019s Immune Deficiencies<\/em> (pp. 797\u2013812). Elsevier. https:\/\/doi.org\/10.1016\/B978-0-12-816768-7.00035-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.hoc.2009.01.013\">Welte, K., &amp; Zeidler, C. (2009). Severe congenital neutropenia. <em>Hematology\/Oncology Clinics of North America<\/em>, <em>23<\/em>(2), 307\u2013320. https:\/\/doi.org\/10.1016\/j.hoc.2009.01.013<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1097\/MPH.0000000000002071\">Goktas, S., Azizoglu, Z. B., Petersheim, D., Erdogan, M., Eke Gungor, H., Bisgin, A., Tu\u011f Bozdo\u011fan, S., Eken, A., Unal, E., Klein, C., &amp; Patiroglu, T. (2022). A novel intronic mutation reduces hax1 level and is associated with severe congenital neutropenia. <em>Journal of Pediatric Hematology\/Oncology<\/em>, <em>44<\/em>(1), e62\u2013e67. https:\/\/doi.org\/10.1097\/MPH.0000000000002071<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/pbc.31591\">K\u0131z\u0131lay, D. \u00d6., Karap\u0131nar, D. Y., Karada\u015f, N., Karao\u011flan, M., Akbayram, S., G\u00f6k\u015fen, D., Gadashova, A., Albayrak, S., \u015eahino\u011flu, E. P., Orbak, Z., B\u0131\u00e7ak\u00e7\u0131, Z., Ak\u0131n, L., Albayrak, C., Ko\u00e7, C., \u00dcn\u00fcvar, A., An\u0131k, A., Aral, Y. Z., Cimbek, E. A., Bahad\u0131r, A., \u2026 \u00d6zen, S. (2025). A little known but very common phenotype in patients with severe congenital neutropenia due to hax1 deficiency: Premature ovarian insufficiency. <em>Pediatric Blood &amp; Cancer<\/em>, e31591. https:\/\/doi.org\/10.1002\/pbc.31591<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/bjh.18840\">Pogozhykh, D., Yilmaz&nbsp;Karapinar, D., Klimiankou, M., Gerschmann, N., Ebetsberger\u2010Dachs, G., Palmblad, J., Carlsson, G., Masmas, T., Kinsey, S., Bartels, M., Mellor\u2010Heineke, S., Welte, K., Skokowa, J., &amp; Zeidler, C. (2023). <em>hax1<\/em> \u2010related congenital neutropenia: Long\u2010term observation in paediatric and adult patients enrolled in the european branch of the severe chronic neutropenia international registry(scnir). <em>British Journal of Haematology<\/em>, <em>202<\/em>(2), 393\u2013411. https:\/\/doi.org\/10.1111\/bjh.18840<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":34,"template":"page_gd.php","class_list":["post-33649","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\/33649","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":15,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33649\/revisions"}],"predecessor-version":[{"id":127745,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33649\/revisions\/127745"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33649"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}